Concept information
...
Genetic disease
Hereditary disease
Autosomal hereditary disorder
Recessive hereditary disorder, NOS
...
developmental disorder
Neurodevelopmental disorder
Developmental mental disorder
Intellectual disability
...
Finding of limb structure
Disease of extremity
Congenital anomaly of limb
Congenital anomaly of digit (disorder)
Preferred term
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Associated morphology
Finding site
- 299711006
- anus
- Supratentorial brain
Is a
- 11194003
- 363070008
- 363080007
- 363212003
- 363235000
- 41443008
- 8447006
- Congenital anomaly of digit (disorder)
- epilepsy
- Intellectual disability
- Recessive hereditary disorder, NOS
Occurrence
Pathological process
In other languages
URI
http://www.irandoc.acir/onto/irandoc/723676007
{{label}}
{{#each values }} {{! loop through ConceptPropertyValue objects }}
{{#if prefLabel }}
{{/if}}
{{/each}}
{{#if notation }}{{ notation }} {{/if}}{{ prefLabel }}
{{#ifDifferentLabelLang lang }} ({{ lang }}){{/ifDifferentLabelLang}}
{{#if vocabName }}
{{ vocabName }}
{{/if}}

