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725029001: Frontonasal dysplasia with alopecia and genital anomaly 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
3437017017 Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3437018010 Frontonasal dysplasia with alopecia and genital anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3437020013 Craniofrontonasal dysplasia with alopecia and hypogonadism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3437021012 Frontonasal dysplasia with alopecia and genital abnomality en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3780964011 ALX4 (human aristaless-like 4) related frontonasal dysplasia with alopecia and genital anomaly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3437022017 A phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism. Four cases have been described in two families. The frontonasal dysplasia includes coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip. Affected individuals have mild to moderate intellectual deficit. A homozygous nonsense mutation in the human aristaless-like 4 (ALX4, 11p11.2) gene was identified in both families. The condition is transmitted as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3991121000052118 syndrom med frontonasal dysplasi, alopeci och missbildning av könsorgan sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Is a Hypogonadism true Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Is a Frontonasal dysplasia sequence true Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Is a medfödd total alopeci false Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Is a Reproductive system hereditary disorder true Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Is a Congenital anomaly of endocrine gonad (disorder) true Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 5
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Finding site Gonadal endocrine structure false Inferred relationship Some 5
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Associated morphology kongenital dysplasi false Inferred relationship Some 6
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Finding site Bone structure of cranium false Inferred relationship Some 6
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 7
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Finding site Face structure false Inferred relationship Some 7
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 4
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Some 4
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Finding site Face structure true Inferred relationship Some 4
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 1
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 1
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Finding site Gonadal endocrine structure true Inferred relationship Some 3
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Finding site Bone structure of cranium true Inferred relationship Some 2
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Associated morphology kongenital dysplasi false Inferred relationship Some 2
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Is a Congenital alopecia true Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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