| syndroom van verstandelijke beperking type Birk-Barel (aandoening) | | syndroom van verstandelijke beperking type Birk-Barel | | syndroom van Birk-Barel
syndroom van mentale retardatie, hypotonie en faciale dysmorfie
syndroom van verstandelijke beperking, hypotonie en faciale dysmorfie
'KCNK9-imprinting'-syndroom
syndroom van verstandelijke handicap, hypotonie en faciale dysmorfie
Birk-Barel-syndroom
| | Intellectual disability Birk-Barel type | | Birk Barel mental retardation dysmorphism syndrome
KCNK9 (potassium two pore domain channel subfamily K member 9) imprinting syndrome
Intellectual disability, hypotonia, facial dysmorphism syndrome
| | A rare condition with characteristics of intellectual disability, delayed development of speech and motor skills, hypotonia from birth, lethargy, weak cry, facial weakness, feeding difficulties, failure to thrive. Dysphagia often lasts into adolescence. While muscle tone may improve over time, affected individuals usually have some weakness into adulthood. The weakness can lead to permanent contractures and scoliosis. Also associated with unusual facial features, cleft palate, long neck, narrow chest, tapered fingers. Caused by mutations in the KCNK9 gene, which alter TASK3 channels reducing the flow of ions through the channels and disrupting normal neuron development and excitability. Follows an autosomal dominant pattern of inheritance. About 20 percent of cases result from new mutations in the gene and occur in people with no history of the disorder in their family. |
| | Id | 764861005 | | 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 |
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| SNOMED CT to Orphanet simple map | 166108 |
| 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 |
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