1222660008: Pancreatic agenesis, holoprosencephaly syndrome (disorder)

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

\Viscus structure finding (finding)\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome

\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Holoprosencephaly sequence\Pancreatic agenesis, holoprosencephaly syndrome

\Digestive system finding (finding)\Finding of pancreas\Disorder of pancreas\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome

\Disease\Genetic disease\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\Holoprosencephaly sequence\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Holoprosencephaly sequence\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Holoprosencephaly sequence\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\Holoprosencephaly sequence\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Holoprosencephaly sequence\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital malformation of pancreas\Congenital absence of pancreas\Aplasia of pancreas\Agenesis of pancreas\Pancreatic agenesis, holoprosencephaly syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5048352017 Pancreatic agenesis, holoprosencephaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5048353010 Pancreatic agenesis, holoprosencephaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5399994019 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability and dysmorphic craniofacial features, and agenesis of the gallbladder. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399995018 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability and dysmorphic craniofacial features, and agenesis of the gallbladder. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pancreatic agenesis, holoprosencephaly syndrome	Is a	Agenesis of pancreas	true	Inferred relationship	Some
Pancreatic agenesis, holoprosencephaly syndrome	Is a	Holoprosencephaly sequence	true	Inferred relationship	Some
Pancreatic agenesis, holoprosencephaly syndrome	Is a	Genetic disease	true	Inferred relationship	Some
Pancreatic agenesis, holoprosencephaly syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Pancreatic agenesis, holoprosencephaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Pancreatic agenesis, holoprosencephaly syndrome	Finding site	Head structure	true	Inferred relationship	Some	1
Pancreatic agenesis, holoprosencephaly syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Pancreatic agenesis, holoprosencephaly syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Pancreatic agenesis, holoprosencephaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Pancreatic agenesis, holoprosencephaly syndrome	Finding site	Entire pancreas	true	Inferred relationship	Some	2
Pancreatic agenesis, holoprosencephaly syndrome	Associated morphology	Agenesis (morphologic abnormality)	true	Inferred relationship	Some	2
Pancreatic agenesis, holoprosencephaly syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
5048352017	Pancreatic agenesis, holoprosencephaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048353010	Pancreatic agenesis, holoprosencephaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399994019	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability and dysmorphic craniofacial features, and agenesis of the gallbladder.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399995018	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability and dysmorphic craniofacial features, and agenesis of the gallbladder.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core