719402008: Lethal hemolytic anemia and genital anomaly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Congenital anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Congenital anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly 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\Lethal haemolytic anaemia and genital anomaly 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\Lethal haemolytic anaemia and genital anomaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Lethal haemolytic anaemia and genital anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Lethal haemolytic anaemia and genital anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Lethal haemolytic anaemia and genital anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Lethal haemolytic anaemia and genital anomaly syndrome

\Finding of blood, lymphatics and immune system\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Congenital anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Finding of blood, lymphatics and immune system\Blood disease\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Finding of blood, lymphatics and immune system\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome

\Functional finding\Red blood cell destruction finding\Haemolysis\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lethal haemolytic anaemia and genital anomaly syndrome
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Disease\Blood disease\Anaemia\Congenital anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Disease\Blood disease\Anaemia\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Disease\Blood disease\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Lethal haemolytic anaemia and genital anomaly syndrome
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Lethal haemolytic anaemia and genital anomaly syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Lethal haemolytic anaemia and genital anomaly syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Lethal haemolytic anaemia and genital anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Lethal haemolytic anaemia and genital anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Lethal haemolytic anaemia and genital anomaly syndrome
\Disease\Congenital disease\Congenital anaemia\Lethal haemolytic anaemia and genital anomaly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Lethal haemolytic anaemia and genital anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Lethal haemolytic anaemia and genital anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Lethal haemolytic anaemia and genital anomaly syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3316222010 Lethal hemolytic anemia and genital anomaly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3316223017 Lethal hemolytic anemia and genital anomaly syndrome en Synonym Active Case insensitive SNOMED CT core

3316224011 Lethal haemolytic anaemia and genital anomaly syndrome en Synonym Active Case insensitive SNOMED CT core

3316225012 Waters West syndrome en Synonym Active Case sensitive SNOMED CT core

3316226013 Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. en Definition Active Case sensitive SNOMED CT core

3316227016 Waters-West syndrome is characterised by the association of lethal non-spherocytic, non-immune haemolytic anaemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lethal haemolytic anaemia and genital anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Lethal haemolytic anaemia and genital anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Lethal haemolytic anaemia and genital anomaly syndrome	Finding site	Structure of genitourinary system	true	Inferred relationship	Some	1
Lethal haemolytic anaemia and genital anomaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Lethal haemolytic anaemia and genital anomaly syndrome	Has interpretation	Present	true	Inferred relationship	Some	4
Lethal haemolytic anaemia and genital anomaly syndrome	Interprets	Haemolysis	true	Inferred relationship	Some	4
Lethal haemolytic anaemia and genital anomaly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Lethal haemolytic anaemia and genital anomaly syndrome	Is a	Congenital anaemia	true	Inferred relationship	Some
Lethal haemolytic anaemia and genital anomaly syndrome	Is a	Genitourinary congenital anomalies	true	Inferred relationship	Some
Lethal haemolytic anaemia and genital anomaly syndrome	Is a	Hereditary nonspherocytic haemolytic anaemia	true	Inferred relationship	Some
Lethal haemolytic anaemia and genital anomaly syndrome	Finding site	Erythrocyte	true	Inferred relationship	Some	5
Lethal haemolytic anaemia and genital anomaly syndrome	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
Lethal haemolytic anaemia and genital anomaly syndrome	Has definitional manifestation	Haemolysis	false	Inferred relationship	Some
Lethal haemolytic anaemia and genital anomaly syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	7
Lethal haemolytic anaemia and genital anomaly syndrome	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	7
Lethal haemolytic anaemia and genital anomaly syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	8
Lethal haemolytic anaemia and genital anomaly syndrome	Interprets	Red blood cell count	true	Inferred relationship	Some	8
Lethal haemolytic anaemia and genital anomaly syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
Lethal haemolytic anaemia and genital anomaly syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Lethal haemolytic anaemia and genital anomaly syndrome	Finding site	Structure of genitourinary system	false	Inferred relationship	Some	6
Lethal haemolytic anaemia and genital anomaly syndrome	Interprets	Erythrocyte destruction	false	Inferred relationship	Some

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
3316222010	Lethal hemolytic anemia and genital anomaly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3316223017	Lethal hemolytic anemia and genital anomaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3316224011	Lethal haemolytic anaemia and genital anomaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3316225012	Waters West syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3316226013	Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance.	en	Definition	Active	Case sensitive	SNOMED CT core
3316227016	Waters-West syndrome is characterised by the association of lethal non-spherocytic, non-immune haemolytic anaemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance.	en	Definition	Active	Case sensitive	SNOMED CT core