720633009: Syndactyly type 7 (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\...

\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Cenani Lenz syndrome

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Cenani Lenz syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cenani Lenz syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cenani Lenz syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Cenani Lenz syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Cenani Lenz syndrome
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Cenani Lenz syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Cenani Lenz syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Cenani Lenz syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Cenani Lenz syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Cenani Lenz syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3321602018 Cenani Lenz syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3321603011 Cenani Lenz syndactyly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3321604017 Cenani syndactyly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3321605016 Syndactyly type 7 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3321607012 Syndactyly type 7 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5402439018 Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. 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
Cenani Lenz syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Cenani Lenz syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cenani Lenz syndrome	Is a	Syndactyly (disorder)	true	Inferred relationship	Some
Cenani Lenz syndrome	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	1
Cenani Lenz syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Cenani Lenz syndrome	Finding site	Digit structure	true	Inferred relationship	Some	1
Cenani Lenz syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cenani Lenz syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Cenani Lenz syndrome	Associated morphology	Abnormally fused structure (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

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Reference Sets

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