| syndroom van microcefalie, kleine gestalte, verstandelijke beperking en faciale dysmorfie (aandoening) | | syndroom van microcefalie, kleine gestalte, verstandelijke beperking en faciale dysmorfie | | syndroom van microcefalie, kleine gestalte, mentale retardatie en faciale dysmorfie
syndroom van microcefalie, kleine gestalte, verstandelijke handicap en faciale dysmorfie
| | Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome | | Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism. |
| | Id | 771074000 | | Status | Primitive |
| SNOMED CT to Orphanet simple map |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.1 | | Term | Congenitale gestoorde-ontwikkelingssyndromen voornamelijk gepaard gaande met kleine gestalte |
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| SNOMED CT to ICD-10 extended map | | Target | Q87.1 | | Rule | TRUE | | Advice | ALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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