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773628009: syndrome de dysplasie frontonasale-microphtalmie sévère-fente faciale sévère (trouble)


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

Descriptions:

Id Description Lang Type Status Case? Module
1008501000172115 dysplasie fronto-nasale liée à ALX1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3724878013 Frontonasal dysplasia type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724879017 ALX1-related frontonasal dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3724880019 Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724881015 ALX1 (aristaless-like homeobox 1) related frontonasal dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3724882010 Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
771701000241115 syndrome de dysplasie frontonasale-microphtalmie sévère-fente faciale sévère (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
956041000172113 syndrome de dysplasie frontonasale-microphtalmie sévère-fente faciale sévère fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3724883017 A rare genetic orofacial clefting malformation syndrome with characteristics of severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism. Frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. There is evidence the disease is caused by homozygous mutation in the ALX1 gene on chromosome 12q21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 2
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) est un(e) (attribut) fente palatine true Inferred relationship Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) est un(e) (attribut) Microphthalmos true Inferred relationship Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) localisation d'une constatation (attribut) crâne (structure corporelle) true Inferred relationship Some 4
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) localisation d'une constatation (attribut) Palatal structure true Inferred relationship Some 1
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 4
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) localisation d'une constatation (attribut) Entire eye true Inferred relationship Some 3
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) morphologie associée (attribut) Congenital smallness true Inferred relationship Some 3
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) est un(e) (attribut) Frontonasal dysplasia sequence true Inferred relationship Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 4
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 5
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) localisation d'une constatation (attribut) structure osseuse de la tête (structure corporelle) false Inferred relationship Some 5
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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