726734001: syndroom van kleine gestalte en 'locked finger' (aandoening)

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

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Short stature locking fingers syndrome (disorder)

\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of finger\Short stature locking fingers syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Arthropathy of joint of hand (disorder)\Short stature locking fingers syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Short stature locking fingers syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Arthropathy of joint of hand (disorder)\Short stature locking fingers syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Short stature locking fingers syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of finger (finding)\Finding of musculoskeletal structure of finger\Finding of finger joint\Finger joint locking\Short stature locking fingers syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of finger (finding)\Disorder of finger\Short stature locking fingers syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of musculoskeletal structure of digit of hand\Finding of musculoskeletal structure of finger\Finding of finger joint\Finger joint locking\Short stature locking fingers syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Arthropathy of joint of hand (disorder)\Short stature locking fingers syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Disorder of finger\Short stature locking fingers syndrome (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Short stature locking fingers syndrome (disorder)

\Musculoskeletal finding\Finding of musculoskeletal structure of digit of hand\Finding of musculoskeletal structure of finger\Finding of finger joint\Finger joint locking\Short stature locking fingers syndrome (disorder)
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Arthropathy of joint of hand (disorder)\Short stature locking fingers syndrome (disorder)
\Musculoskeletal finding\Joint finding\Finding of finger joint\Finger joint locking\Short stature locking fingers syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short stature locking fingers syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy of joint of hand (disorder)\Short stature locking fingers syndrome (disorder)

\Disease\Disorder of joint region\Arthropathy (disorder)\Arthropathy of joint of hand (disorder)\Short stature locking fingers syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature locking fingers syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short stature locking fingers syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Short stature locking fingers syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Short stature locking fingers syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature locking fingers syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short stature locking fingers syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy of joint of hand (disorder)\Short stature locking fingers syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of finger\Short stature locking fingers syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Arthropathy of joint of hand (disorder)\Short stature locking fingers syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Short stature locking fingers syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Short stature locking fingers syndrome (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Short stature locking fingers syndrome (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Short stature locking fingers syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Short stature locking fingers syndrome (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Short stature locking fingers syndrome (disorder)	Is a	Disorder of finger	true	Inferred relationship	Some
Short stature locking fingers syndrome (disorder)	Is a	Short stature disorder	true	Inferred relationship	Some
Short stature locking fingers syndrome (disorder)	Is a	multisysteemaandoening	false	Inferred relationship	Some
Short stature locking fingers syndrome (disorder)	Is a	Finger joint locking	true	Inferred relationship	Some
Short stature locking fingers syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Short stature locking fingers syndrome (disorder)	Is a	Arthropathy of joint of hand (disorder)	true	Inferred relationship	Some
Short stature locking fingers syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Short stature locking fingers syndrome (disorder)	Finding site	Finger joint structure	true	Inferred relationship	Some	1
Short stature locking fingers syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Short stature locking fingers syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Short stature locking fingers syndrome (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	3

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
3452298017	Short stature locking fingers syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3452299013	Short stature locking fingers syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3452300017	Eng Strom syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6393811000146118	syndroom van Eng-Strom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6393831000146113	Eng-Strom-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7053471000146119	syndroom van kleine gestalte en 'locked finger' (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7053481000146117	syndroom van kleine gestalte en 'locked finger'	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7053491000146115	syndroom van korte gestalte en in flexie gefixeerde vinger	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3452301018	Syndrome with characteristics of intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core