FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

719947004: Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (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
3318554011 Temtamy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318555012 Temtamy Shalash syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318559018 Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318560011 Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402275018 A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402276017 A very rare congenital genetic neurological disorder characterised by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. 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
Temtamy syndrome Is a Agenesis of corpus callosum false Inferred relationship Some
Temtamy syndrome Is a Congenital anomaly of face bones true Inferred relationship Some
Temtamy syndrome Is a Congenital anomaly of skull true Inferred relationship Some
Temtamy syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Temtamy syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Temtamy syndrome Is a Mental retardation false Inferred relationship Some
Temtamy syndrome Is a Congenital ocular coloboma (disorder) true Inferred relationship Some
Temtamy syndrome Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Temtamy syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Temtamy syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Temtamy syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Temtamy syndrome Occurrence Congenital true Inferred relationship Some 4
Temtamy syndrome Occurrence Congenital false Inferred relationship Some 5
Temtamy syndrome Occurrence Congenital false Inferred relationship Some 6
Temtamy syndrome Occurrence Congenital false Inferred relationship Some 7
Temtamy syndrome Associated morphology Developmental anomaly false Inferred relationship Some 5
Temtamy syndrome Associated morphology Developmental anomaly false Inferred relationship Some 6
Temtamy syndrome Finding site Bone structure of cranium false Inferred relationship Some 6
Temtamy syndrome Associated morphology Congenital failure of fusion false Inferred relationship Some 7
Temtamy syndrome Finding site Eye structure false Inferred relationship Some 7
Temtamy syndrome Finding site Bone structure of face false Inferred relationship Some 5
Temtamy syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 4
Temtamy syndrome Finding site Entire corpus callosum false Inferred relationship Some 4
Temtamy syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 1
Temtamy syndrome Occurrence Congenital true Inferred relationship Some 1
Temtamy syndrome Finding site Eye structure false Inferred relationship Some 1
Temtamy syndrome Is a Intellectual disability true Inferred relationship Some
Temtamy syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Temtamy syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Temtamy syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Temtamy syndrome Occurrence Congenital true Inferred relationship Some 2
Temtamy syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Temtamy syndrome Occurrence Congenital true Inferred relationship Some 3
Temtamy syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Temtamy syndrome Finding site Eye structure true Inferred relationship Some 3
Temtamy syndrome Finding site Bone structure of face true Inferred relationship Some 2
Temtamy syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Temtamy syndrome Finding site Bone structure of cranium true Inferred relationship Some 1
Temtamy syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 3
Temtamy syndrome Associated morphology Aplasia true Inferred relationship Some 4
Temtamy syndrome Is a Partial agenesis of corpus callosum false Inferred relationship Some
Temtamy syndrome Finding site Corpus callosum structure true Inferred relationship Some 4
Temtamy syndrome Is a Aplasia of corpus callosum true Inferred relationship Some
Temtamy syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Temtamy syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Some 5
Temtamy syndrome Has interpretation Impaired true Inferred relationship Some 5
Temtamy syndrome Interprets Adaptation behavior (observable entity) true Inferred relationship Some 6
Temtamy syndrome Has interpretation Impaired true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start