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

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder)
\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of head circumference\Microcephaly (finding)\Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder)

\Disorder of head (disorder)\Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder)

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

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

14059621000172115 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) Belgian module (core metadata concept)

14059631000172117 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) Belgian module (core metadata concept)

7476021000172115 syndroom van intra-uteriene groeivertraging, meerdere congenitale café-au-laitvlekken en verhoogde zusterchromatide-uitwisseling nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7476031000172117 syndroom van intra-uteriene groeirestrictie, multipele congenitale café-au-laitvlekken en verhoogde zusterchromatide-uitwisseling nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

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

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

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
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
14059621000172115	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)	Belgian module (core metadata concept)
14059631000172117	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)	Belgian module (core metadata concept)
7476021000172115	syndroom van intra-uteriene groeivertraging, meerdere congenitale café-au-laitvlekken en verhoogde zusterchromatide-uitwisseling	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7476031000172117	syndroom van intra-uteriene groeirestrictie, multipele congenitale café-au-laitvlekken en verhoogde zusterchromatide-uitwisseling	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)