766032007: Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\...

\Disorder of digit\Congenital anomaly of digit\Adactyly\Ectrodactyly\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome

\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome

\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Adactyly\Ectrodactyly\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
\Disease\Disorder of head\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Malformation sequence\Holoprosencephaly sequence\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Malformation sequence\Holoprosencephaly sequence\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Ectrodactyly\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3660451013 Hartsfield syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3660452018 Hartsfield Bixler Demyer syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3660453011 Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3660454017 Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome	Is a	Autosomal hereditary disorder	true	Inferred relationship	Existential restriction modifier
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Existential restriction modifier
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome	Is a	Holoprosencephaly sequence	true	Inferred relationship	Existential restriction modifier
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome	Is a	Ectrodactyly	true	Inferred relationship	Existential restriction modifier
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Existential restriction modifier	2
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	1
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome	Finding site	Entire digit	true	Inferred relationship	Existential restriction modifier	2
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome	Is a	Adactyly	false	Inferred relationship	Existential restriction modifier
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome	Associated morphology	Absence	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3660451013	Hartsfield syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3660452018	Hartsfield Bixler Demyer syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3660453011	Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3660454017	Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module