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

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\...

\Disorder of digit\Congenital anomaly of digit\Polydactyly\McKusick Kaufman syndrome

\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\McKusick Kaufman syndrome
\Congenital anomaly of limb\Polymelia\Polydactyly\McKusick Kaufman syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\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\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\McKusick Kaufman syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\McKusick Kaufman syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\McKusick Kaufman syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\McKusick Kaufman syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\McKusick Kaufman syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\McKusick Kaufman syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\McKusick Kaufman syndrome
\Finding of trunk structure\Disorder of trunk\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 of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\McKusick Kaufman syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\McKusick Kaufman syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\McKusick Kaufman syndrome
\Finding of trunk structure\Disorder of trunk\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\Reproductive system hereditary 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 body system\Hereditary disorder by system\Reproductive system hereditary disorder\McKusick Kaufman syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\McKusick Kaufman syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\McKusick Kaufman syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\McKusick Kaufman syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\McKusick Kaufman syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\McKusick Kaufman syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\McKusick Kaufman syndrome
\Disease\Disorder of trunk\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 of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\McKusick Kaufman syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\McKusick Kaufman syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\McKusick Kaufman syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\McKusick Kaufman syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\McKusick Kaufman syndrome
\Disease\Congenital disease\Congenital anomaly\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\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\McKusick Kaufman syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\McKusick Kaufman syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\McKusick Kaufman syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\McKusick Kaufman syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\McKusick Kaufman syndrome
\Disease\Developmental disorder\Congenital anomaly\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\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\McKusick Kaufman syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\McKusick Kaufman syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\McKusick Kaufman syndrome

Status: current, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2995284015 Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation en Synonym Active Case insensitive SNOMED CT core

2995334012 Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) en Fully specified name Active Case insensitive SNOMED CT core

2995433019 McKusick Kaufman syndrome en Synonym Active Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
McKusick Kaufman syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
McKusick Kaufman syndrome	Finding site	Genital structure	true	Inferred relationship	Some	1
McKusick Kaufman syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
McKusick Kaufman syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
McKusick Kaufman syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
McKusick Kaufman syndrome	Is a	Polydactyly	true	Inferred relationship	Some
McKusick Kaufman syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
McKusick Kaufman syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
McKusick Kaufman syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
McKusick Kaufman syndrome	Finding site	Genital structure	false	Inferred relationship	Some	4
McKusick Kaufman syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
McKusick Kaufman syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
McKusick Kaufman syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
McKusick Kaufman syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
McKusick Kaufman syndrome	Finding site	Limb structure	false	Inferred relationship	Some	3
McKusick Kaufman syndrome	Associated morphology	Supernumerary structure	false	Inferred relationship	Some	1
McKusick Kaufman syndrome	Finding site	Digit structure	false	Inferred relationship	Some	1
McKusick Kaufman syndrome	Is a	Congenital malformation of genital organs	true	Inferred relationship	Some
McKusick Kaufman syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
McKusick Kaufman syndrome	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	2
McKusick Kaufman syndrome	Finding site	Digit structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2995284015	Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation	en	Synonym	Active	Case insensitive	SNOMED CT core
2995334012	Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
2995433019	McKusick Kaufman syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core