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723578001: Terminal osseous dysplasia and pigmentary defect syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3425158015 Terminal osseous dysplasia and pigmentary defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425159011 Terminal osseous dysplasia and pigmentary defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403114011 Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403115012 Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425158015 Terminal osseous dysplasia and pigmentary defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425159011 Terminal osseous dysplasia and pigmentary defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425160018 Syndrome with characteristics of malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. It has been described in 18 females, six of whom came from four different generations of the same family. Phenotypic expression is very heterogeneous. In the majority of patients, the bone dysplasia is limited to the hands and feet but shortening and/or bowing of the bones of the arms and legs has been reported in severe cases. The pigmentary lesions and digital fibromatosis appear a few months after birth. There is evidence that the syndrome is caused by mutation in the FLNA gene. The syndrome is transmitted as an in utero male-lethal X-linked dominant trait, explaining the large number of miscarriages reported in the affected families. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403114011 Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403115012 Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3442291001000115 Terminale Knochendysplasie - Pigmentstörungen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1000411000172115 syndrome de dysplasie osseuse terminale-défauts de pigmentation fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1000411000172115 syndrome de dysplasie osseuse terminale-défauts de pigmentation fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3442291001000115 Terminale Knochendysplasie - Pigmentstörungen 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
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Is a Skeletal dysplasia false Inferred relationship Existential restriction modifier (core metadata concept)
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Is a Congenital pigmentary skin anomalies false Inferred relationship Existential restriction modifier (core metadata concept)
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Is a Inherited cutaneous hyperpigmentation true Inferred relationship Existential restriction modifier (core metadata concept)
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Associated morphology Hyperpigmentation (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 5
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Is a Genetic disorder of skin pigmentation (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Associated morphology Hyperpigmentation (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Is a A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. 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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