702407009: syndroom van hydrometrocolpos, postaxiale polydactylie en congenitale hartmalformatie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of limb (disorder)\...

\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Congenital malformation of genital organs (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Is a	Polydactyly (disorder)	true	Inferred relationship	Some
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Finding site	Genital structure	false	Inferred relationship	Some	4
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	4
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Finding site	Limb structure	false	Inferred relationship	Some	3
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Associated morphology	Supernumerary structure	false	Inferred relationship	Some	1
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Finding site	Digit structure	false	Inferred relationship	Some	1
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Is a	Congenital malformation of genital organs (disorder)	true	Inferred relationship	Some
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	2
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	2
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Finding site	Genital structure	true	Inferred relationship	Some	1
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2995284015	Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995334012	Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995433019	McKusick Kaufman syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6113971000146114	syndroom van McKusick-Kaufman	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6844271000146116	syndroom van Kaufman-McKusick	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7853451000146111	syndroom van hydrometrocolpos, postaxiale polydactylie en congenitale hartmalformatie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7853461000146114	syndroom van hydrometrocolpos en postaxiale polydactylie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7853471000146115	syndroom van hydrometrocolpos, postaxiale polydactylie en congenitale hartmalformatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)