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1179293006: Erythrokeratodermia cardiomyopathy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4650575017 Erythrokeratodermia cardiomyopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4650576016 Erythrokeratodermia cardiomyopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4650577013 EKC (erythrokeratodermia cardiomyopathy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399480012 Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399481011 Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterised by generalised cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4650575017 Erythrokeratodermia cardiomyopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4650576016 Erythrokeratodermia cardiomyopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4650577013 EKC (erythrokeratodermia cardiomyopathy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4650579011 A rare genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy and dental enamel anomalies. Variable features include failure to thrive, developmental delay and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4650580014 A rare genetic erythrokeratoderma disorder characterised by generalised cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy and dental enamel anomalies. Variable features include failure to thrive, developmental delay and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399480012 Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399481011 Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterised by generalised cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3450171001000111 Erythrokeratodermie-Kardiomyopathie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6119361000241117 syndrome d'érythrokératodermie et cardiomyopathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6119371000241113 syndrome EKC (érythrokératodermie et cardiomyopathie) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6119361000241117 syndrome d'érythrokératodermie et cardiomyopathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6119371000241113 syndrome EKC (érythrokératodermie et cardiomyopathie) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3450171001000111 Erythrokeratodermie-Kardiomyopathie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Erythrokeratodermia cardiomyopathy syndrome Is a Hereditary disorder of tooth true Inferred relationship Existential restriction modifier (core metadata concept)
Erythrokeratodermia cardiomyopathy syndrome Is a Erythrokeratoderma true Inferred relationship Existential restriction modifier (core metadata concept)
Erythrokeratodermia cardiomyopathy syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Erythrokeratodermia cardiomyopathy syndrome Is a Congestive cardiomyopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Erythrokeratodermia cardiomyopathy syndrome Is a Disorder of hard tissues of teeth (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Erythrokeratodermia cardiomyopathy syndrome Is a Disorder of skin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Erythrokeratodermia cardiomyopathy syndrome Interprets Keratinisation true Inferred relationship Existential restriction modifier (core metadata concept) 4
Erythrokeratodermia cardiomyopathy syndrome Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 4
Erythrokeratodermia cardiomyopathy syndrome Finding site Myocardium structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Erythrokeratodermia cardiomyopathy syndrome Associated morphology Dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 1
Erythrokeratodermia cardiomyopathy syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Erythrokeratodermia cardiomyopathy syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Erythrokeratodermia cardiomyopathy syndrome Finding site Enamel structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Erythrokeratodermia cardiomyopathy syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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