722461004: Meacham syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Meacham 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\Meacham syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of diaphragm\Meacham syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of diaphragm\Congenital anomaly of diaphragm\Meacham 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\Meacham 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\Meacham syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\Meacham 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\Meacham 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\Meacham syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Diaphragmatic finding\Disorder of diaphragm\Congenital anomaly of diaphragm\Meacham syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of diaphragm\Meacham syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Meacham syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of diaphragm\Meacham syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Meacham syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Meacham syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of diaphragm\Congenital anomaly of diaphragm\Meacham syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Meacham syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Meacham syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of diaphragm\Meacham syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Meacham syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Meacham syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of diaphragm\Congenital anomaly of diaphragm\Meacham syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Diaphragmatic finding\Disorder of diaphragm\Congenital anomaly of diaphragm\Meacham 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\Meacham syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of diaphragm\Meacham syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of diaphragm\Congenital anomaly of diaphragm\Meacham 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\Meacham 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\Meacham syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of diaphragm\Meacham syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Meacham syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of diaphragm\Meacham syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Meacham syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Meacham syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of diaphragm\Congenital anomaly of diaphragm\Meacham syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of diaphragm\Meacham syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Meacham syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of diaphragm\Meacham 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\Meacham syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of diaphragm\Meacham syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Meacham syndrome

\General finding of soft tissue\Diaphragmatic finding\Disorder of diaphragm\Congenital anomaly of diaphragm\Meacham syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital anomaly of diaphragm\Meacham syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of diaphragm\Congenital anomaly of diaphragm\Meacham syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Meacham syndrome
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Meacham syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Meacham syndrome

\Respiratory finding\Diaphragmatic finding\Disorder of diaphragm\Congenital anomaly of diaphragm\Meacham syndrome
\Respiratory finding\Respiratory disease\Congenital anomaly of the respiratory system\Congenital anomaly of diaphragm\Meacham syndrome
\Respiratory finding\Respiratory disease\Disorder of diaphragm\Congenital anomaly of diaphragm\Meacham syndrome

\Muscle finding\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital anomaly of diaphragm\Meacham syndrome
\Muscle finding\Myopathy\Disorder of skeletal muscle\Disorder of diaphragm\Congenital anomaly of diaphragm\Meacham syndrome
\Muscle finding\Diaphragmatic finding\Disorder of diaphragm\Congenital anomaly of diaphragm\Meacham syndrome

\Disease\Disorder of body system\Respiratory disease\Congenital anomaly of the respiratory system\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Disorder of body system\Respiratory disease\Disorder of diaphragm\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Meacham syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Meacham syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Meacham syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Meacham syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Meacham syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Disorder of diaphragm\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Disorder of diaphragm\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Meacham syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of diaphragm\Congenital anomaly of diaphragm\Meacham 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\Meacham syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Meacham syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Meacham syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Meacham syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Meacham syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of diaphragm\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Meacham syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Meacham syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Meacham syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Meacham syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Meacham syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of the respiratory system\Congenital anomaly of diaphragm\Meacham 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\Meacham syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Meacham syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Meacham syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Meacham syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Meacham syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of diaphragm\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Meacham syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of the respiratory system\Congenital anomaly of diaphragm\Meacham 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\Meacham syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Meacham syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Meacham syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Meacham syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital anomaly of diaphragm\Meacham syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Meacham syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3332233017 Meacham syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3332234011 Meacham syndrome en Synonym Active Case sensitive SNOMED CT core

3332235012 Meacham Winn Culler syndrome en Synonym Active Case sensitive SNOMED CT core

3332236013 A multiple malformation syndrome with characteristics of congenital diaphragmatic abnormalities, genital defects and cardiac malformations. Less than 15 patients have been reported worldwide. Ambiguous or female external genitalia are present in individuals with 46,XY karyotype. The genital abnormalities are variable and may include a true double vagina or septate vagina, absent uterus, abnormal male gonads in the presence of normal external female genitalia or male pseudohermaphroditism with abnormal internal female genitalia. Complex cyanotic congenital heart defects, (hypoplastic right lungs, anomalous pulmonary venous return and abnormalities of the diaphragm) are frequent. One patient with rhabdomyomatous dysplasia of the lungs has been reported. Mutations in the WT1 gene have been identified in some patients with Meacham syndrome. All patients reported to date died in early childhood. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Meacham syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Meacham syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Meacham syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Meacham syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Meacham syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Meacham syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Meacham syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Meacham syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Meacham syndrome	Finding site	Genital structure	true	Inferred relationship	Some	2
Meacham syndrome	Finding site	Structure of heart	true	Inferred relationship	Some	1
Meacham syndrome	Is a	Congenital malformation of genital organs	true	Inferred relationship	Some
Meacham syndrome	Is a	Congenital heart disease	true	Inferred relationship	Some
Meacham syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Meacham syndrome	Is a	Congenital anomaly of diaphragm	true	Inferred relationship	Some
Meacham syndrome	Is a	Indeterminate sex and pseudohermaphroditism	false	Inferred relationship	Some
Meacham syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Meacham syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Meacham syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Meacham syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Meacham syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Meacham syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Meacham syndrome	Finding site	Structure of heart	false	Inferred relationship	Some	5
Meacham syndrome	Finding site	Diaphragm structure	true	Inferred relationship	Some	3
Meacham syndrome	Finding site	Genital structure	false	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Respiratory finding reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3332233017	Meacham syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3332234011	Meacham syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3332235012	Meacham Winn Culler syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3332236013	A multiple malformation syndrome with characteristics of congenital diaphragmatic abnormalities, genital defects and cardiac malformations. Less than 15 patients have been reported worldwide. Ambiguous or female external genitalia are present in individuals with 46,XY karyotype. The genital abnormalities are variable and may include a true double vagina or septate vagina, absent uterus, abnormal male gonads in the presence of normal external female genitalia or male pseudohermaphroditism with abnormal internal female genitalia. Complex cyanotic congenital heart defects, (hypoplastic right lungs, anomalous pulmonary venous return and abnormalities of the diaphragm) are frequent. One patient with rhabdomyomatous dysplasia of the lungs has been reported. Mutations in the WT1 gene have been identified in some patients with Meacham syndrome. All patients reported to date died in early childhood.	en	Definition	Active	Case sensitive	SNOMED CT core