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

718896000: X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (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
3314339013 X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
3314340010 X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction 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
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Is a Macrocephaly false Inferred relationship Existential restriction modifier
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Is a Mental retardation false Inferred relationship Existential restriction modifier
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Associated morphology Congenital enlargement false Inferred relationship Existential restriction modifier 1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Finding site Entire head false Inferred relationship Existential restriction modifier 1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Associated morphology Enlargement true Inferred relationship Existential restriction modifier 1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Finding site Head structure true Inferred relationship Existential restriction modifier 1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Has interpretation Above reference range true Inferred relationship Existential restriction modifier 2
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Is a Congenital macrocephaly true Inferred relationship Existential restriction modifier
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Interprets Head circumference true Inferred relationship Existential restriction modifier 2
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 3
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 3
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 4
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start