FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

720635002: Cerebro-facio-thoracic dysplasia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3321611018 Cerebro-facio-thoracic dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321612013 Cerebro-facio-thoracic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321613015 Pascual Castroviejo syndrome type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402442012 Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402443019 Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterised by facial dysmorphism, intellectual deficit and costovertebral abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321611018 Cerebro-facio-thoracic dysplasia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321611018 Cerebro-facio-thoracic dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321612013 Cerebro-facio-thoracic dysplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321612013 Cerebro-facio-thoracic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321613015 Pascual Castroviejo syndrome type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321614014 A rare syndrome with characteristics of facial dysmorphism, intellectual deficit and costovertebral abnormalities. To date, 13 cases have been reported in the literature. Dysmorphic features include brachycephaly, hypertelorism, broad nasal bridge, large philtrum, triangular-shaped mouth and micrognathia. There is often synophrys and a low hairline on the back. Costovertebral abnormalities are always present: short, bifid or fused ribs, bony bridges joining the posterior arches in some ribs, hemi vertebrae. Intellectual deficit is constant but the severity varies and patients also have cerebral abnormalities: cortical atrophy, hypoplasia of the corpus callosum and cerebellar vermis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402442012 Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402443019 Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterised by facial dysmorphism, intellectual deficit and costovertebral abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3387921001000113 Dysplasie, zerebro-fazio-thorakale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
918931000172110 dysplasie cérébrofaciothoracique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1005091000172112 syndrome de Pascual-Castroviejo type 1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
918931000172110 dysplasie cérébrofaciothoracique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1005091000172112 syndrome de Pascual-Castroviejo type 1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3387921001000113 Dysplasie, zerebro-fazio-thorakale 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
Cerebro-facio-thoracic dysplasia (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-facio-thoracic dysplasia (disorder) Is a Congenital anomaly of spine true Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-facio-thoracic dysplasia (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-facio-thoracic dysplasia (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-facio-thoracic dysplasia (disorder) Is a Dysostosis true Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-facio-thoracic dysplasia (disorder) Is a Congenital anomaly of rib true Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-facio-thoracic dysplasia (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-facio-thoracic dysplasia (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-facio-thoracic dysplasia (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Cerebro-facio-thoracic dysplasia (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cerebro-facio-thoracic dysplasia (disorder) Finding site Bone structure of rib true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cerebro-facio-thoracic dysplasia (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Cerebro-facio-thoracic dysplasia (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Cerebro-facio-thoracic dysplasia (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cerebro-facio-thoracic dysplasia (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Cerebro-facio-thoracic dysplasia (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Cerebro-facio-thoracic dysplasia (disorder) Finding site Bone structure of rib false Inferred relationship Existential restriction modifier (core metadata concept) 4
Cerebro-facio-thoracic dysplasia (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cerebro-facio-thoracic dysplasia (disorder) Finding site Bone structure of vertebra false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cerebro-facio-thoracic dysplasia (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-facio-thoracic dysplasia (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebro-facio-thoracic dysplasia (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Cerebro-facio-thoracic dysplasia (disorder) Finding site Bone structure of vertebra true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cerebro-facio-thoracic dysplasia (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebro-facio-thoracic dysplasia (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cerebro-facio-thoracic dysplasia (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebro-facio-thoracic dysplasia (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cerebro-facio-thoracic dysplasia (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebro-facio-thoracic dysplasia (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cerebro-facio-thoracic dysplasia (disorder) Is a Disorder of vertebral column (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-facio-thoracic dysplasia (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cerebro-facio-thoracic dysplasia (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cerebro-facio-thoracic dysplasia (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-facio-thoracic dysplasia (disorder) Is a Finding of vertebra (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-facio-thoracic dysplasia (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cerebro-facio-thoracic dysplasia (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cerebro-facio-thoracic dysplasia (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 5
Cerebro-facio-thoracic dysplasia (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start