autosomaal recessief faciodigitogenitaal syndroom (aandoening) | | autosomaal recessief faciodigitogenitaal syndroom | | Koeweit-type faciodigitogenitaal syndroom syndroom van Teebi-Naguib-Alawadi Aarskog-achtig syndroom
| | Autosomal recessive facio-digito-genital syndrome | | Aarskog-like syndrome Autosomal recessive faciodigitogenital syndrome Facio-digito-genital syndrome Kuwait type Teebi Naguib Alawadi syndrome
| | A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. It has been observed in 16 subjects from five distantly related sibships of a large Kuwaiti Bedouin tribe. The affected patients had no intellectual deficit. Transmitted as an autosomal recessive trait. |
| Id | 725434009 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q87.8 | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
|
SNOMED CT to Orphanet simple map | 1974 |
SNOMED CT to ICD-10 extended map | Target | Q87.8 | Rule | TRUE | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|