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1162984000: X-gebonden hereditaire dominante aandoening (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked dominant hereditary disease (disorder)	Is a	X-linked hereditary disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chondrodysplasia punctata, X-linked dominant type (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Skeletal dysplasia brachydactyly syndrome	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
X-linked Charcot-Marie-Tooth disease type 6 (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Microphthalmia with linear skin defect syndrome (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
BRESEK syndrome	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Otopalatodigital syndrome spectrum disorder	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
X-linked Charcot-Marie-Tooth disease type 1	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
2-methyl-3-hydroxybutyric aciduria (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
X-linked scapuloperoneal muscular dystrophy (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
X-linked intellectual disability Atkin type (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Aicardi's syndrome	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Alport syndrome X-linked (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Craniofrontonasal dysplasia (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Fragile X syndrome	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Focal dermal hypoplasia	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Familial infantile gigantism (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Fragile X associated tremor ataxia syndrome (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Incontinentia pigmenti syndrome	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Lisch epithelial corneal dystrophy (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Nance-Horan syndrome (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Oculofaciocardiodental syndrome (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
X-linked congenital generalized hypertrichosis	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
X-linked immunoneurologic disorder (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
PPM-X syndrome	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Adrenoleukodystrophy	Is a	False	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
X-linked dominant erythropoietic protoporphyria	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
X-linked intellectual disability, hypotonia, movement disorder syndrome	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Danon disease	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some
Rett syndrome	Is a	True	X-linked dominant hereditary disease (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4592777013	X-linked dominant hereditary disease (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4592778015	X-linked dominant hereditary disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13302881000146114	X-gebonden erfelijke dominante ziekte	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13302891000146111	X-gebonden hereditaire dominante aandoening	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13302901000146112	X-gebonden hereditaire dominante aandoening (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)