715242008: Ulna metaphyseal dysplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of upper extremity\Disorder of forearm\Congenital anomaly of ulna\Ulna metaphyseal dysplasia syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of ulna\Ulna metaphyseal dysplasia syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Ulna metaphyseal dysplasia syndrome
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of ulna\Ulna metaphyseal dysplasia syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity\Disorder of forearm\Congenital anomaly of ulna\Ulna metaphyseal dysplasia syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of ulna\Ulna metaphyseal dysplasia syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome

\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Congenital anomaly of ulna\Ulna metaphyseal dysplasia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Ulna metaphyseal dysplasia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ulna metaphyseal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Ulna metaphyseal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Ulna metaphyseal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ulna metaphyseal dysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ulna metaphyseal dysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ulna metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ulna metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ulna metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Ulna metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Ulna metaphyseal dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome
\Disease\Disorder of extremity\Disorder of upper extremity\Disorder of forearm\Congenital anomaly of ulna\Ulna metaphyseal dysplasia syndrome
\Disease\Disorder of extremity\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of ulna\Ulna metaphyseal dysplasia syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Ulna metaphyseal dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Ulna metaphyseal dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Ulna metaphyseal dysplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Ulna metaphyseal dysplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Ulna metaphyseal dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Ulna metaphyseal dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Ulna metaphyseal dysplasia syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Ulna metaphyseal dysplasia syndrome

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

3301973018 Ulna metaphyseal dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3301974012 Ulna metaphyseal dysplasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3301975013 Rosenberg-Lohr syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ulna metaphyseal dysplasia syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Ulna metaphyseal dysplasia syndrome	Is a	Metaphyseal chondrodysplasia	true	Inferred relationship	Existential restriction modifier
Ulna metaphyseal dysplasia syndrome	Is a	Congenital anomaly of ulna	true	Inferred relationship	Existential restriction modifier
Ulna metaphyseal dysplasia syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Ulna metaphyseal dysplasia syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Ulna metaphyseal dysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Ulna metaphyseal dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Ulna metaphyseal dysplasia syndrome	Finding site	Bone structure of ulna	false	Inferred relationship	Existential restriction modifier	2
Ulna metaphyseal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Ulna metaphyseal dysplasia syndrome	Finding site	Bone structure of ulna	true	Inferred relationship	Existential restriction modifier	1
Ulna metaphyseal dysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Ulna metaphyseal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Ulna metaphyseal dysplasia syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Ulna metaphyseal dysplasia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Ulna metaphyseal dysplasia syndrome	Interprets	Height / growth measure	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
3301973018	Ulna metaphyseal dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3301974012	Ulna metaphyseal dysplasia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3301975013	Rosenberg-Lohr syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module