FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

763863002: syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale (trouble)


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
1011871000172119 syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3644789015 Zori Stalker Williams syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3644790012 Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3644791011 Pectus excavatum, macrocephaly, dysplastic nails syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
766661000241110 syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
997371000172110 syndrome de Zori-Stalker-Williams fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3644792016 A rare multiple congenital anomalies syndrome with characteristics of relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. 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
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale est un(e) (attribut) Congenital anomaly of head false Inferred relationship Some
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale morphologie associée (attribut) Enlargement (morphologic abnormality) true Inferred relationship Some 2
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale morphologie associée (attribut) Deformity true Inferred relationship Some 1
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale morphologie associée (attribut) Deformity true Inferred relationship Some 3
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale morphologie associée (attribut) dysplasie true Inferred relationship Some 4
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale localisation d'une constatation (attribut) Nail unit structure true Inferred relationship Some 4
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale interprète (attribut) Height / growth measure true Inferred relationship Some 5
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale interprète (attribut) Head circumference true Inferred relationship Some 6
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale localisation d'une constatation (attribut) structure de la tête true Inferred relationship Some 2
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale est un(e) (attribut) Congenital macrocephaly (disorder) true Inferred relationship Some
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale a pour interprétation (attribut) au-dessus de l'étendue de référence true Inferred relationship Some 6
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale est un(e) (attribut) Macrocephaly false Inferred relationship Some
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale est un(e) (attribut) anomalie congénitale de l'ongle (trouble) true Inferred relationship Some
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale est un(e) (attribut) insuffisance staturale true Inferred relationship Some
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale est un(e) (attribut) Congenital pectus excavatum (disorder) true Inferred relationship Some
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale survenue (attribut) congénital true Inferred relationship Some 4
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 4
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale localisation d'une constatation (attribut) Nail structure false Inferred relationship Some 4
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale survenue (attribut) congénital true Inferred relationship Some 3
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale morphologie associée (attribut) Congenital deformity (morphologic abnormality) false Inferred relationship Some 2
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale survenue (attribut) congénital true Inferred relationship Some 2
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale survenue (attribut) congénital true Inferred relationship Some 1
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale morphologie associée (attribut) Congenital deformity (morphologic abnormality) false Inferred relationship Some 1
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale localisation d'une constatation (attribut) sternum (structure corporelle) false Inferred relationship Some 2
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale localisation d'une constatation (attribut) Bone structure of rib true Inferred relationship Some 1
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale localisation d'une constatation (attribut) sternum (structure corporelle) true Inferred relationship Some 3
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale localisation d'une constatation (attribut) Entire head false Inferred relationship Some 3
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale morphologie associée (attribut) Congenital enlargement (morphologic abnormality) false Inferred relationship Some 3
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale localisation d'une constatation (attribut) Entire head false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start