1208346003: Congenital hydrocephalus, low insertion of umbilicus syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of abdominal wall\Disorder of umbilicus\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of abdominal wall\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Umbilicus finding\Disorder of umbilicus\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of abdominal wall\Disorder of umbilicus\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of abdominal wall\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of abdominal wall\Disorder of umbilicus\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of abdominal wall\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of soft tissue of trunk\Disorder of abdominal wall\Disorder of umbilicus\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of soft tissue of trunk\Disorder of abdominal wall\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome

\General finding of soft tissue\Umbilicus finding\Disorder of umbilicus\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of trunk\Disorder of abdominal wall\Disorder of umbilicus\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of trunk\Disorder of abdominal wall\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Hydrocephalus\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome

\Congenital anomaly of brain\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Congenital hydrocephalus, low insertion of umbilicus syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome

\Disease\Genetic disease\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of body wall\Congenital anomaly of body wall\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of body wall\Disorder of abdominal wall\Disorder of umbilicus\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of body wall\Disorder of abdominal wall\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of abdominal wall\Disorder of umbilicus\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of abdominal wall\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of trunk\Disorder of soft tissue of trunk\Disorder of abdominal wall\Disorder of umbilicus\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of trunk\Disorder of soft tissue of trunk\Disorder of abdominal wall\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of trunk\Disorder of abdominal wall\Disorder of umbilicus\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of trunk\Disorder of abdominal wall\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Congenital hydrocephalus, low insertion of umbilicus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of anterior abdominal wall\Congenital umbilical defect\Congenital hydrocephalus, low insertion of umbilicus syndrome

Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4963754012 Palmer Pagon syndrome en Synonym Active Case sensitive SNOMED CT core

4963755013 Congenital hydrocephalus, low insertion of umbilicus syndrome en Synonym Active Case insensitive SNOMED CT core

4963757017 Congenital hydrocephalus, low insertion of umbilicus syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4963756014 A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital hydrocephalus involving the lateral ventricles, low-set umbilicus, bilateral inguinal hernia, and mild facial dysmorphism (such as epicanthal folds, broad flat nasal bridge and small bulbous nose). Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hydrocephalus, low insertion of umbilicus syndrome	Is a	Congenital umbilical defect	true	Inferred relationship	Some
Congenital hydrocephalus, low insertion of umbilicus syndrome	Is a	Congenital hydrocephalus	true	Inferred relationship	Some
Congenital hydrocephalus, low insertion of umbilicus syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Congenital hydrocephalus, low insertion of umbilicus syndrome	Is a	Genetic disease	true	Inferred relationship	Some
Congenital hydrocephalus, low insertion of umbilicus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital hydrocephalus, low insertion of umbilicus syndrome	Finding site	Brain CSF pathway	true	Inferred relationship	Some	1
Congenital hydrocephalus, low insertion of umbilicus syndrome	Associated morphology	Dilatation	true	Inferred relationship	Some	1
Congenital hydrocephalus, low insertion of umbilicus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Congenital hydrocephalus, low insertion of umbilicus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital hydrocephalus, low insertion of umbilicus syndrome	Finding site	Umbilical structure	true	Inferred relationship	Some	2
Congenital hydrocephalus, low insertion of umbilicus syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Congenital hydrocephalus, low insertion of umbilicus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Congenital hydrocephalus, low insertion of umbilicus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Congenital hydrocephalus, low insertion of umbilicus syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
Congenital hydrocephalus, low insertion of umbilicus syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Congenital hydrocephalus, low insertion of umbilicus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4963754012	Palmer Pagon syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4963755013	Congenital hydrocephalus, low insertion of umbilicus syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4963757017	Congenital hydrocephalus, low insertion of umbilicus syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4963756014	A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital hydrocephalus involving the lateral ventricles, low-set umbilicus, bilateral inguinal hernia, and mild facial dysmorphism (such as epicanthal folds, broad flat nasal bridge and small bulbous nose). Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot.	en	Definition	Active	Case sensitive	SNOMED CT core