715522000: Phocomelia Schinzel type (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia Schinzel type

\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\Phocomelia Schinzel type
\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\Phocomelia Schinzel type
\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\Phocomelia Schinzel type
\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\Phocomelia Schinzel type
\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\Phocomelia Schinzel type
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Phocomelia Schinzel type
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Phocomelia Schinzel type

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Phocomelia Schinzel type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phocomelia Schinzel type
\Disease\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia Schinzel type
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Congenital anomaly of the pelvis\Phocomelia Schinzel type
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Phocomelia Schinzel type
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Phocomelia Schinzel type
\Disease\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Phocomelia Schinzel type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Phocomelia Schinzel type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia Schinzel type
\Disease\Developmental disorder\Developmental hereditary disorder\Phocomelia Schinzel type
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Phocomelia Schinzel type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Phocomelia Schinzel type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia Schinzel type

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3302904013 Phocomelia Schinzel type (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3302905014 Phocomelia Schinzel type en Synonym Active Only initial character case insensitive SNOMED CT core module

3302906010 Al Awadi-Raas-Rothschild syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3302907018 Schinzel phocomelia syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Phocomelia Schinzel type	Is a	Phocomelia	true	Inferred relationship	Existential restriction modifier
Phocomelia Schinzel type	Is a	Congenital anomaly of the pelvis	true	Inferred relationship	Existential restriction modifier
Phocomelia Schinzel type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Phocomelia Schinzel type	Associated morphology	Congenital absence	false	Inferred relationship	Existential restriction modifier	2
Phocomelia Schinzel type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Phocomelia Schinzel type	Finding site	Extremity part	true	Inferred relationship	Existential restriction modifier	2
Phocomelia Schinzel type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Phocomelia Schinzel type	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Phocomelia Schinzel type	Finding site	Structure of pelvis	false	Inferred relationship	Existential restriction modifier	2
Phocomelia Schinzel type	Associated morphology	Congenital absence	false	Inferred relationship	Existential restriction modifier	3
Phocomelia Schinzel type	Finding site	Extremity part	false	Inferred relationship	Existential restriction modifier	3
Phocomelia Schinzel type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Phocomelia Schinzel type	Finding site	Structure of pelvis	true	Inferred relationship	Existential restriction modifier	1
Phocomelia Schinzel type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Phocomelia Schinzel type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Phocomelia Schinzel type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Phocomelia Schinzel type	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Phocomelia Schinzel type	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

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Id	Description	Lang	Type	Status	Case?	Module
3302904013	Phocomelia Schinzel type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3302905014	Phocomelia Schinzel type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3302906010	Al Awadi-Raas-Rothschild syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3302907018	Schinzel phocomelia syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module