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1260143005: Megalencephaly, severe kyphoscoliosis, overgrowth syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
5159439011 Megalencephaly, severe kyphoscoliosis, overgrowth syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
5159440013 Megalencephaly, severe kyphoscoliosis, overgrowth syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a Congenital macrocephaly true Inferred relationship Existential restriction modifier
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a Global developmental delay true Inferred relationship Existential restriction modifier
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a Hereditary disorder of nervous system true Inferred relationship Existential restriction modifier
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a Multiple malformation syndrome with early overgrowth true Inferred relationship Existential restriction modifier
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a Macroencephaly true Inferred relationship Existential restriction modifier
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 3
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 3
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 4
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 4
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Interprets Head circumference true Inferred relationship Existential restriction modifier 5
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Has interpretation Above reference range true Inferred relationship Existential restriction modifier 5
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Finding site Structure of cerebrum true Inferred relationship Existential restriction modifier 1
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Associated morphology Enlargement true Inferred relationship Existential restriction modifier 1
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 2
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 2
Megalencephaly, severe kyphoscoliosis, overgrowth 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

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