Concept information
Clinical finding (finding)
Finding of general physiological development
Disorder of stature
Small stature
...
Hereditary disease
Autosomal hereditary disorder
Recessive hereditary disorder, NOS
Autosomal recessive ichthyosis (disorder)
...
Skin finding
Rough skin (finding)
Congenital ichthyosis of skin
Autosomal recessive ichthyosis (disorder)
...
Disease of extremity
Congenital anomaly of limb
Longitudinal deficiency of part of limb (disorder)
Brachydactyly
...
Disease of extremity
Congenital anomaly of limb
Longitudinal deficiency of part of limb (disorder)
Brachydactyly
...
Congenital malformation
Congenital anomaly of limb
Longitudinal deficiency of part of limb (disorder)
Brachydactyly
...
Congenital malformation
Congenital anomaly of limb
Longitudinal deficiency of part of limb (disorder)
Brachydactyly
...
Congenital malformation
Congenital deformity
Longitudinal deficiency of part of limb (disorder)
Brachydactyly
...
Congenital malformation
Congenital deformity
Longitudinal deficiency of part of limb (disorder)
Brachydactyly
...
Congenital anomaly of limb
Congenital anomaly of digit (disorder)
Congenital abnormal shape of digit
Brachydactyly
...
Congenital anomaly of limb
Congenital anomaly of digit (disorder)
Congenital abnormal shape of digit
Brachydactyly
Preferred term
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Associated morphology
Finding site
Has interpretation
Interprets
Is a
- 363343008
- 41443008
- 416671000
- Autosomal recessive ichthyosis (disorder)
- Brachydactyly
- Small stature
Occurrence
Pathological process
In other languages
URI
http://www.irandoc.acir/onto/irandoc/783551005
{{label}}
{{#each values }} {{! loop through ConceptPropertyValue objects }}
{{#if prefLabel }}
{{/if}}
{{/each}}
{{#if notation }}{{ notation }} {{/if}}{{ prefLabel }}
{{#ifDifferentLabelLang lang }} ({{ lang }}){{/ifDifferentLabelLang}}
{{#if vocabName }}
{{ vocabName }}
{{/if}}

