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2097009: Dyskeratosis (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4621015 Dyskeratosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
750213019 Dyskeratosis (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2608941000005116 dyskeratose da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dyskeratosis Is a Epithelial dysplasia true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial dyskeratotic comedones Associated morphology False Dyskeratosis Inferred relationship Some 1
Warty dyskeratoma Associated morphology False Dyskeratosis Inferred relationship Some 1
Hereditary benign intraepithelial dyskeratosis Associated morphology False Dyskeratosis Inferred relationship Some 1
Dyskeratosis congenita Associated morphology True Dyskeratosis Inferred relationship Some 1
Hereditary benign intraepithelial dyskeratosis (disorder) Associated morphology False Dyskeratosis Inferred relationship Some 1
Hereditary benign intraepithelial dyskeratosis (disorder) Associated morphology False Dyskeratosis Inferred relationship Some 2
Hereditary benign intraepithelial dyskeratosis (disorder) Associated morphology False Dyskeratosis Inferred relationship Some 2
Hereditary benign intraepithelial dyskeratosis (disorder) Associated morphology False Dyskeratosis Inferred relationship Some 1
Hereditary benign intraepithelial dyskeratosis (disorder) Associated morphology False Dyskeratosis Inferred relationship Some 2
Hereditary benign intraepithelial dyskeratosis (disorder) Associated morphology False Dyskeratosis Inferred relationship Some 3
Hereditary benign intraepithelial dyskeratosis (disorder) Associated morphology False Dyskeratosis Inferred relationship Some 1
Hereditary benign intraepithelial dyskeratosis (disorder) Associated morphology False Dyskeratosis Inferred relationship Some 2
Hereditary benign intraepithelial dyskeratosis (disorder) Associated morphology False Dyskeratosis Inferred relationship Some 1
Hereditary benign intraepithelial dyskeratosis (disorder) Associated morphology False Dyskeratosis Inferred relationship Some 2
Hereditary benign intraepithelial dyskeratosis (disorder) Associated morphology True Dyskeratosis Inferred relationship Some 2
Hereditary benign intraepithelial dyskeratosis (disorder) Associated morphology True Dyskeratosis Inferred relationship Some 1
X-linked dyskeratosis congenita (disorder) Associated morphology False Dyskeratosis Inferred relationship Some 2
Autosomal recessive dyskeratosis congenita Associated morphology False Dyskeratosis Inferred relationship Some 2
A very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterised by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anaemia. Associated morphology False Dyskeratosis Inferred relationship Some 2
Autosomal dominant dyskeratosis congenita (disorder) Associated morphology False Dyskeratosis Inferred relationship Some 2
Dyskeratosis congenita Associated morphology False Dyskeratosis Inferred relationship Some 2
A very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterised by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anaemia. Associated morphology True Dyskeratosis Inferred relationship Some 1
X-linked dyskeratosis congenita (disorder) Associated morphology True Dyskeratosis Inferred relationship Some 1
Autosomal recessive dyskeratosis congenita Associated morphology True Dyskeratosis Inferred relationship Some 1
Autosomal dominant dyskeratosis congenita (disorder) Associated morphology True Dyskeratosis Inferred relationship Some 1
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. Associated morphology True Dyskeratosis Inferred relationship Some 7
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. Associated morphology False Dyskeratosis Inferred relationship Some 8
Acantholytic dyskeratosis (morphologic abnormality) Is a True Dyskeratosis Inferred relationship Some
Familial dyskeratotic comedones Associated morphology True Dyskeratosis Inferred relationship Some 3
A rare genetic corneal dystrophy disorder with characteristics of corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhinitis, dyshidrosis and/or nail thickening. Associated morphology True Dyskeratosis Inferred relationship Some 4

This concept is not in any reference sets

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