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

1255319004: Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Oct 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
5146300011 Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
5146301010 Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
5146354013 Arboleda Tham syndrome 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
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Is a Congenital heart disease true Inferred relationship Existential restriction modifier
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Is a Global developmental delay true Inferred relationship Existential restriction modifier
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Is a Genetic disease true Inferred relationship Existential restriction modifier
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 3
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 3
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 4
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 4
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Finding site Heart structure true Inferred relationship Existential restriction modifier 1
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 2
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 2
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start