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

Status: current, Primitive. 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 Case insensitive SNOMED CT core
3425159011 Terminal osseous dysplasia and pigmentary defect syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Terminal osseous dysplasia and pigmentary defect syndrome Occurrence Congenital true Inferred relationship Some 1
Terminal osseous dysplasia and pigmentary defect syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Terminal osseous dysplasia and pigmentary defect syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Terminal osseous dysplasia and pigmentary defect syndrome Associated morphology Hyperpigmentation true Inferred relationship Some 1
Terminal osseous dysplasia and pigmentary defect syndrome Finding site Skin structure true Inferred relationship Some 1
Terminal osseous dysplasia and pigmentary defect syndrome Finding site Bone structure true Inferred relationship Some 2
Terminal osseous dysplasia and pigmentary defect syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 2
Terminal osseous dysplasia and pigmentary defect syndrome Associated morphology Dysplasia true Inferred relationship Some 2
Terminal osseous dysplasia and pigmentary defect syndrome Is a Otopalatodigital syndrome spectrum disorder true Inferred relationship Some
Terminal osseous dysplasia and pigmentary defect syndrome Is a Congenital skeletal dysplasia false Inferred relationship Some
Terminal osseous dysplasia and pigmentary defect syndrome Is a X-linked hereditary disease false Inferred relationship Some
Terminal osseous dysplasia and pigmentary defect syndrome Is a Congenital pigmentary skin anomalies false Inferred relationship Some
Terminal osseous dysplasia and pigmentary defect syndrome Is a Inherited cutaneous hyperpigmentation true Inferred relationship Some
Terminal osseous dysplasia and pigmentary defect syndrome Is a Inherited disorder of connective tissue false Inferred relationship Some
Terminal osseous dysplasia and pigmentary defect syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Terminal osseous dysplasia and pigmentary defect syndrome Occurrence Congenital false Inferred relationship Some 3
Terminal osseous dysplasia and pigmentary defect syndrome Associated morphology Hyperpigmentation false Inferred relationship Some 4
Terminal osseous dysplasia and pigmentary defect syndrome Occurrence Congenital false Inferred relationship Some 4
Terminal osseous dysplasia and pigmentary defect syndrome Finding site Skin structure false Inferred relationship Some 4
Terminal osseous dysplasia and pigmentary defect syndrome Occurrence Congenital false Inferred relationship Some 5
Terminal osseous dysplasia and pigmentary defect syndrome Finding site Skin structure false Inferred relationship Some 3
Terminal osseous dysplasia and pigmentary defect syndrome Associated morphology Developmental abnormality false Inferred relationship Some 3
Terminal osseous dysplasia and pigmentary defect syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 5
Terminal osseous dysplasia and pigmentary defect syndrome Finding site Bone structure false Inferred relationship Some 5
Terminal osseous dysplasia and pigmentary defect syndrome Is a Genetic disorder of skin pigmentation false Inferred relationship Some
Terminal osseous dysplasia and pigmentary defect syndrome Occurrence Congenital true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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