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787408008: Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3775321017 Osteopathia striata, pigmentary dermopathy, white forelock syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3775322012 Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3775323019 Whyte Murphy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3775324013 Syndrome with characteristics of the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular hyperpigmented dermopathy and a white forelock. It has been observed in a woman and her two daughters, whereas her son is unaffected. X-linked or autosomal dominant inheritance is proposed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3775321017 Osteopathia striata, pigmentary dermopathy, white forelock syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3775322012 Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3775323019 Whyte Murphy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3775324013 Syndrome with characteristics of the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular hyperpigmented dermopathy and a white forelock. It has been observed in a woman and her two daughters, whereas her son is unaffected. X-linked or autosomal dominant inheritance is proposed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
1053181000195113 Osteopathia striata - Hyperpigmentierung - weisse Stirnlocke de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5593021000241119 syndrome d'ostéopathie striée, hyperpigmentation et mèche blanche fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5593021000241119 syndrome d'ostéopathie striée, hyperpigmentation et mèche blanche fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1053181000195113 Osteopathia striata - Hyperpigmentierung - weisse Stirnlocke de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3440541001000112 Osteopathia striata - Hyperpigmentierung - weiße Stirnlocke 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
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Is a White forelock true Inferred relationship Existential restriction modifier (core metadata concept)
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Is a Osteopathia striata true Inferred relationship Existential restriction modifier (core metadata concept)
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Is a Inherited cutaneous hyperpigmentation true Inferred relationship Existential restriction modifier (core metadata concept)
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Is a Congenital anomaly of hair true Inferred relationship Existential restriction modifier (core metadata concept)
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 4
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Interprets Bone density scan true Inferred relationship Existential restriction modifier (core metadata concept) 4
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Associated morphology Hyperpigmentation (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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