FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

720635002: Cerebro-facio-thoracic dysplasia (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3321611018 Cerebro-facio-thoracic dysplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3321612013 Cerebro-facio-thoracic dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module
3321613015 Pascual Castroviejo syndrome type 1 en Synonym Active Entire term case sensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cerebro-facio-thoracic dysplasia Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Cerebro-facio-thoracic dysplasia Is a Congenital anomaly of spine true Inferred relationship Existential restriction modifier
Cerebro-facio-thoracic dysplasia Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Cerebro-facio-thoracic dysplasia Is a Mental retardation false Inferred relationship Existential restriction modifier
Cerebro-facio-thoracic dysplasia Is a Dysostosis true Inferred relationship Existential restriction modifier
Cerebro-facio-thoracic dysplasia Is a Congenital anomaly of rib true Inferred relationship Existential restriction modifier
Cerebro-facio-thoracic dysplasia Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier
Cerebro-facio-thoracic dysplasia Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Cerebro-facio-thoracic dysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 3
Cerebro-facio-thoracic dysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Cerebro-facio-thoracic dysplasia Finding site Bone structure of rib true Inferred relationship Existential restriction modifier 3
Cerebro-facio-thoracic dysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 4
Cerebro-facio-thoracic dysplasia Occurrence Congenital false Inferred relationship Existential restriction modifier 4
Cerebro-facio-thoracic dysplasia Occurrence Congenital false Inferred relationship Existential restriction modifier 5
Cerebro-facio-thoracic dysplasia Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 3
Cerebro-facio-thoracic dysplasia Finding site Face structure false Inferred relationship Existential restriction modifier 3
Cerebro-facio-thoracic dysplasia Finding site Bone structure of rib false Inferred relationship Existential restriction modifier 4
Cerebro-facio-thoracic dysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 5
Cerebro-facio-thoracic dysplasia Finding site Bone structure of vertebra false Inferred relationship Existential restriction modifier 5
Cerebro-facio-thoracic dysplasia Is a Intellectual disability true Inferred relationship Existential restriction modifier
Cerebro-facio-thoracic dysplasia Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Cerebro-facio-thoracic dysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 2
Cerebro-facio-thoracic dysplasia Finding site Bone structure of vertebra true Inferred relationship Existential restriction modifier 2
Cerebro-facio-thoracic dysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Cerebro-facio-thoracic dysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Cerebro-facio-thoracic dysplasia Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Cerebro-facio-thoracic dysplasia Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Cerebro-facio-thoracic dysplasia Finding site Face structure true Inferred relationship Existential restriction modifier 1
Cerebro-facio-thoracic dysplasia Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Cerebro-facio-thoracic dysplasia Is a Disorder of vertebral column true Inferred relationship Existential restriction modifier
Cerebro-facio-thoracic dysplasia Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 2
Cerebro-facio-thoracic dysplasia Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 3
Cerebro-facio-thoracic dysplasia Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Cerebro-facio-thoracic dysplasia Is a Finding of vertebra true Inferred relationship Existential restriction modifier
Cerebro-facio-thoracic dysplasia Interprets Intellectual ability true Inferred relationship Existential restriction modifier 4
Cerebro-facio-thoracic dysplasia Has interpretation Impaired true Inferred relationship Existential restriction modifier 4
Cerebro-facio-thoracic dysplasia Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 5
Cerebro-facio-thoracic dysplasia Has interpretation Impaired true Inferred relationship Existential restriction modifier 5
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start