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773554009: THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3724064011 THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3724065012 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3724066013 Beaulieu Boycott Innes syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3724067016 THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
3724068014 BBIS - Beaulieu Boycott Innes 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
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Associated morphology Congenital smallness true Inferred relationship Existential restriction modifier 1
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier 1
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 2
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a Hereditary disorder of nervous system false Inferred relationship Existential restriction modifier
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a Microcephalus false Inferred relationship Existential restriction modifier
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a Global developmental delay true Inferred relationship Existential restriction modifier
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 2
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier 3
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Interprets Birth head circumference true Inferred relationship Existential restriction modifier 3
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Finding site Head structure true Inferred relationship Existential restriction modifier 1
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a Congenital microcephaly true Inferred relationship Existential restriction modifier
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 4
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 4
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 5
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome 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

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