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1177178005: Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder)


Status: current, Primitive. Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4643904015 Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4643905019 Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome en Synonym Active Case insensitive SNOMED CT core
4643906018 A rare genetic disease with characteristics of multiple café au lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy and symptomatic gastro-esophageal reflux have also been described while malar rash is typically absent. en Definition Active Case sensitive SNOMED CT core
4643907010 A rare genetic disease with characteristics of multiple café au lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy and symptomatic gastro-oesophageal reflux have also been described while malar rash is typically absent. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Is a Microcephaly true Inferred relationship Some
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Is a Disorder of head true Inferred relationship Some
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Is a Café au lait spots true Inferred relationship Some
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Is a Short stature disorder true Inferred relationship Some
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Is a Inherited cutaneous hyperpigmentation true Inferred relationship Some
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Interprets Height / growth measure true Inferred relationship Some 4
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Finding site Structure of head true Inferred relationship Some 3
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Interprets Head circumference true Inferred relationship Some 2
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Has interpretation Below reference range true Inferred relationship Some 2
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Occurrence Congenital true Inferred relationship Some 1
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Finding site Skin structure true Inferred relationship Some 1
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Associated morphology Hyperpigmentation true Inferred relationship Some 1
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Pathological process Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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