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763658004: Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3643191010 Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643192015 Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643193013 HOPP syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404129017 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404130010 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterised by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3643191010 Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643192015 Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643193013 HOPP syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3643396013 An extremely rare ectodermal dysplasia syndrome with characteristics of hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404129017 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404130010 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterised by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3441261001000117 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantarkeratose-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6276911000241115 syndrome HOPP (hypotrichose, ostéolyse, périodontite et kératodermie palmoplantaire) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6276921000241110 syndrome d'hypotrichose, kératodermie palmoplantaire, acro-ostéolyse et périodontite fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6276931000241112 syndrome d'hypotrichose, ostéolyse, parodontite et kératodermie palmoplantaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6276911000241115 syndrome HOPP (hypotrichose, ostéolyse, périodontite et kératodermie palmoplantaire) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6276921000241110 syndrome d'hypotrichose, kératodermie palmoplantaire, acro-ostéolyse et périodontite fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6276931000241112 syndrome d'hypotrichose, ostéolyse, parodontite et kératodermie palmoplantaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3441261001000117 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantarkeratose-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
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Is a Acroosteolysis false Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Is a Congenital hypotrichia true Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Is a Ectodermal dysplasia with hair-tooth-nail defects true Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Is a Hereditary palmoplantar keratoderma true Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Is a Congenital connective tissue disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Is a Congenital anomaly of tooth (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Has interpretation Abnormal false Inferred relationship Existential restriction modifier (core metadata concept) 7
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Interprets Keratinisation false Inferred relationship Existential restriction modifier (core metadata concept) 7
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 6
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Finding site Tooth structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Associated morphology Congenital hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Is a Congenital ichthyosis of skin false Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Is a Hereditary acroosteolysis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 7
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 6
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Finding site Skin structure of sole of foot (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Finding site Skin structure of palmar area of hand true Inferred relationship Existential restriction modifier (core metadata concept) 8
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 8
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Is a Genetic disorder of nail (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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