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702361006: Crouzon syndrome with acanthosis nigricans (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2995059010 Crouzon syndrome with acanthosis nigricans (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995457019 Crouzon syndrome with acanthosis nigricans en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3010153011 Crouzonodermoskeletal syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4022295011 A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995059010 Crouzon syndrome with acanthosis nigricans (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995457019 Crouzon syndrome with acanthosis nigricans en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3010153011 Crouzonodermoskeletal syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4022295011 A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3440961001000115 Crouzon-Syndrom - Acanthosis nigricans de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5875081000241111 syndrome de Crouzon avec acanthosis nigricans fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5875081000241111 syndrome de Crouzon avec acanthosis nigricans fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3440961001000115 Crouzon-Syndrom - Acanthosis nigricans 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
Crouzon syndrome with acanthosis nigricans (disorder) Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Crouzon syndrome with acanthosis nigricans (disorder) Is a Acanthosis nigricans (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Crouzon syndrome with acanthosis nigricans (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Crouzon syndrome with acanthosis nigricans (disorder) Is a Crouzon syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Crouzon syndrome with acanthosis nigricans (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Crouzon syndrome with acanthosis nigricans (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept)
Crouzon syndrome with acanthosis nigricans (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Existential restriction modifier (core metadata concept)
Crouzon syndrome with acanthosis nigricans (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Crouzon syndrome with acanthosis nigricans (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Crouzon syndrome with acanthosis nigricans (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Crouzon syndrome with acanthosis nigricans (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Crouzon syndrome with acanthosis nigricans (disorder) Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 5
Crouzon syndrome with acanthosis nigricans (disorder) Finding site Joint structure of suture of skull false Inferred relationship Existential restriction modifier (core metadata concept) 5
Crouzon syndrome with acanthosis nigricans (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Crouzon syndrome with acanthosis nigricans (disorder) Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept)
Crouzon syndrome with acanthosis nigricans (disorder) Finding site Integumentary system structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Crouzon syndrome with acanthosis nigricans (disorder) Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 1
Crouzon syndrome with acanthosis nigricans (disorder) Interprets Keratinisation true Inferred relationship Existential restriction modifier (core metadata concept) 1
Crouzon syndrome with acanthosis nigricans (disorder) Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 3
Crouzon syndrome with acanthosis nigricans (disorder) Finding site Joint structure of suture of skull true Inferred relationship Existential restriction modifier (core metadata concept) 3
Crouzon syndrome with acanthosis nigricans (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Crouzon syndrome with acanthosis nigricans (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Crouzon syndrome with acanthosis nigricans (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Crouzon syndrome with acanthosis nigricans (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Crouzon syndrome with acanthosis nigricans (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Crouzon syndrome with acanthosis nigricans (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Crouzon syndrome with acanthosis nigricans (disorder) Is a Fibroblast growth factor receptor 3-related craniosynostosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Crouzon syndrome with acanthosis nigricans (disorder) Associated morphology Premature fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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