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1187304005: Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
4673264017 MINDS syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
4673265016 Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
4673266015 Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
4673267012 Smith Kingsmore syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
4673268019 MINDS (macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax) 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
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a Congenital macrocephaly true Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a Seizure disorder true Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a Congenital anomaly of thorax true Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a Hereditary disorder of nervous system true Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a Macroencephaly true Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Finding site Thoracic structure true Inferred relationship Existential restriction modifier 1
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Associated morphology Congenital smallness true Inferred relationship Existential restriction modifier 1
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Finding site Structure of cerebrum true Inferred relationship Existential restriction modifier 2
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Associated morphology Enlargement true Inferred relationship Existential restriction modifier 2
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Interprets Head circumference true Inferred relationship Existential restriction modifier 4
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Has interpretation Above reference range true Inferred relationship Existential restriction modifier 4
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 5
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 5
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 6
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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