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1162984000: 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:

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

45 descendants. Search Descendants:

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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