771146007: Holoprosencephaly with caudal dysgenesis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of back\Finding of sacral region\Sacral spine finding\Disorder of sacrum\Holoprosencephaly with caudal dysgenesis syndrome
\Finding of back\Finding of spinal region\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Holoprosencephaly with caudal dysgenesis syndrome
\Finding of back\Finding of spinal region\Disorder of spinal region\Spinal cord disease\Congenital anomaly of spinal cord\Holoprosencephaly with caudal dysgenesis syndrome
\Finding of back\Finding of spinal region\Disorder of spinal region\Disorder of sacrum\Holoprosencephaly with caudal dysgenesis syndrome
\Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disease\Congenital anomaly of spinal cord\Holoprosencephaly with caudal dysgenesis syndrome
\Finding of back\Finding of spinal region\Sacral spine finding\Disorder of sacrum\Holoprosencephaly with caudal dysgenesis syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Holoprosencephaly with caudal dysgenesis syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disease\Congenital anomaly of spinal cord\Holoprosencephaly with caudal dysgenesis syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Disorder of sacrum\Holoprosencephaly with caudal dysgenesis syndrome
\Finding of back\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Holoprosencephaly with caudal dysgenesis syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Congenital anomaly of the pelvis\Holoprosencephaly with caudal dysgenesis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Disorder of sacrum\Holoprosencephaly with caudal dysgenesis 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 the pelvis\Holoprosencephaly with caudal dysgenesis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Finding of pelvis\Finding of sacral region\Sacral spine finding\Disorder of sacrum\Holoprosencephaly with caudal dysgenesis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Finding of pelvis\Disorder of pelvis\Congenital anomaly of the pelvis\Holoprosencephaly with caudal dysgenesis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Finding of pelvis\Disorder of pelvis\Disorder of sacrum\Holoprosencephaly with caudal dysgenesis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Congenital anomaly of the pelvis\Holoprosencephaly with caudal dysgenesis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Disorder of sacrum\Holoprosencephaly with caudal dysgenesis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Congenital anomaly of the pelvis\Holoprosencephaly with caudal dysgenesis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Disorder of sacrum\Holoprosencephaly with caudal dysgenesis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Holoprosencephaly with caudal dysgenesis syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Holoprosencephaly with caudal dysgenesis syndrome

\Central nervous system finding\Finding of spinal cord\Spinal cord disease\Congenital anomaly of spinal cord\Holoprosencephaly with caudal dysgenesis syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord\Holoprosencephaly with caudal dysgenesis syndrome
\Central nervous system finding\Disorder of the central nervous system\Spinal cord disease\Congenital anomaly of spinal cord\Holoprosencephaly with caudal dysgenesis syndrome

\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly with caudal dysgenesis syndrome

\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spinal cord disease\Congenital anomaly of spinal cord\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Congenital anomaly of the pelvis\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Disorder of sacrum\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Malformation sequence\Holoprosencephaly sequence\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Disorder of back\Disorder of spinal region\Spinal cord disease\Congenital anomaly of spinal cord\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Disorder of back\Disorder of spinal region\Disorder of sacrum\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Malformation sequence\Holoprosencephaly sequence\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of spinal cord\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of spinal cord\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly with caudal dysgenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Holoprosencephaly with caudal dysgenesis syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3704569016 Holoprosencephaly with caudal dysgenesis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3704570015 Holoprosencephaly with caudal dysgenesis syndrome en Synonym Active Case insensitive SNOMED CT core

3704571016 A central nervous system malformation syndrome with characteristics of holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Holoprosencephaly with caudal dysgenesis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Holoprosencephaly with caudal dysgenesis syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Holoprosencephaly with caudal dysgenesis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Holoprosencephaly with caudal dysgenesis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Holoprosencephaly with caudal dysgenesis syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Holoprosencephaly with caudal dysgenesis syndrome	Is a	Disorder of sacrum	true	Inferred relationship	Some
Holoprosencephaly with caudal dysgenesis syndrome	Is a	Congenital anomaly of lower trunk	false	Inferred relationship	Some
Holoprosencephaly with caudal dysgenesis syndrome	Is a	Congenital skeletal dysplasia	false	Inferred relationship	Some
Holoprosencephaly with caudal dysgenesis syndrome	Is a	Sacral spine finding	false	Inferred relationship	Some
Holoprosencephaly with caudal dysgenesis syndrome	Is a	Congenital anomaly of lower limb	false	Inferred relationship	Some
Holoprosencephaly with caudal dysgenesis syndrome	Is a	Congenital anomaly of musculoskeletal structure of trunk	false	Inferred relationship	Some
Holoprosencephaly with caudal dysgenesis syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Holoprosencephaly with caudal dysgenesis syndrome	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Holoprosencephaly with caudal dysgenesis syndrome	Is a	Congenital anomaly of body wall	false	Inferred relationship	Some
Holoprosencephaly with caudal dysgenesis syndrome	Is a	Congenital anomaly of the pelvis	true	Inferred relationship	Some
Holoprosencephaly with caudal dysgenesis syndrome	Finding site	Structure of sacral vertebral column region	true	Inferred relationship	Some	3
Holoprosencephaly with caudal dysgenesis syndrome	Is a	Congenital anomaly of spinal cord	true	Inferred relationship	Some
Holoprosencephaly with caudal dysgenesis syndrome	Is a	Caudal dysplasia sequence	false	Inferred relationship	Some
Holoprosencephaly with caudal dysgenesis syndrome	Finding site	Spinal cord structure	true	Inferred relationship	Some	1
Holoprosencephaly with caudal dysgenesis syndrome	Is a	Holoprosencephaly sequence	true	Inferred relationship	Some
Holoprosencephaly with caudal dysgenesis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Holoprosencephaly with caudal dysgenesis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Holoprosencephaly with caudal dysgenesis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Holoprosencephaly with caudal dysgenesis syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Holoprosencephaly with caudal dysgenesis syndrome	Finding site	Sacral spine structure	false	Inferred relationship	Some	3
Holoprosencephaly with caudal dysgenesis syndrome	Finding site	Structure of head	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
3704569016	Holoprosencephaly with caudal dysgenesis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3704570015	Holoprosencephaly with caudal dysgenesis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3704571016	A central nervous system malformation syndrome with characteristics of holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).	en	Definition	Active	Case sensitive	SNOMED CT core