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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
4643905019 Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399466017 A rare genetic disease characterized by the presence 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5399467014 A rare genetic disease characterised by the presence 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 Entire term case sensitive (core metadata concept) SNOMED CT core
4643904015 Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4643905019 Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5399466017 A rare genetic disease characterized by the presence 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5399467014 A rare genetic disease characterised by the presence 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3423551001000119 Intrauterine Wachstumsverzögerung-kongenitale multiple Café-au-lait-Flecken-gesteigerter Schwesterchromatid-Austausch-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6408311000241114 syndrome de retard de croissance intra-utérin, taches café au lait congénitales multiples et augmentation du taux d'échange entre chromatides sœurs fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6408321000241119 syndrome de retard de croissance intra-utérin, macules café au lait congénitales multiples et augmentation du taux d'échange entre chromatides sœurs fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6408311000241114 syndrome de retard de croissance intra-utérin, taches café au lait congénitales multiples et augmentation du taux d'échange entre chromatides sœurs fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6408321000241119 syndrome de retard de croissance intra-utérin, macules café au lait congénitales multiples et augmentation du taux d'échange entre chromatides sœurs fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3423551001000119 Intrauterine Wachstumsverzögerung-kongenitale multiple Café-au-lait-Flecken-gesteigerter Schwesterchromatid-Austausch-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 (disorder) Is a Microcephaly (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) Is a Disorder of head (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) Is a Café au lait spot (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) Is a Inherited cutaneous hyperpigmentation true Inferred relationship Existential restriction modifier (core metadata concept)
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) Interprets Head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) Associated morphology Hyperpigmentation (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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