702407009: Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)

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

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

\Disorder of digit\Congenital anomaly of digit\Polydactyly (disorder)\McKusick Kaufman syndrome

\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly (disorder)\McKusick Kaufman syndrome
\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\McKusick Kaufman syndrome

\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\McKusick Kaufman syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\McKusick Kaufman syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\McKusick Kaufman syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\McKusick Kaufman syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Congenital malformation of genital organs\McKusick Kaufman syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\McKusick Kaufman syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\McKusick Kaufman syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\McKusick Kaufman syndrome
\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\McKusick Kaufman syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\McKusick Kaufman syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\McKusick Kaufman syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\McKusick Kaufman syndrome
\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\McKusick Kaufman syndrome

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

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
McKusick Kaufman syndrome	Is a	Polydactyly (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
McKusick Kaufman syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
McKusick Kaufman syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
McKusick Kaufman syndrome	Is a	Reproductive system hereditary disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
McKusick Kaufman syndrome	Finding site	Genital structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
McKusick Kaufman syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
McKusick Kaufman syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
McKusick Kaufman syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
McKusick Kaufman syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
McKusick Kaufman syndrome	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
McKusick Kaufman syndrome	Associated morphology	Supernumerary structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
McKusick Kaufman syndrome	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
McKusick Kaufman syndrome	Is a	Congenital malformation of genital organs	true	Inferred relationship	Existential restriction modifier (core metadata concept)
McKusick Kaufman syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
McKusick Kaufman syndrome	Associated morphology	Supernumerary structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
McKusick Kaufman syndrome	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
McKusick Kaufman syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
McKusick Kaufman syndrome	Finding site	Genital structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
McKusick Kaufman syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
McKusick Kaufman syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
McKusick Kaufman syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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
2995284015	Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
3452521001000116	McKusick-Kaufman-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6305391000241117	syndrome de McKusick-Kaufman	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6305401000241119	hydrométrocolpos, polydactylie postaxiale et malformation cardiaque	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6305391000241117	syndrome de McKusick-Kaufman	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6305401000241119	hydrométrocolpos, polydactylie postaxiale et malformation cardiaque	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3452521001000116	McKusick-Kaufman-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module