721229003: Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of shoulder\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Finding of scapular structure\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of shoulder\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Finding of limb structure\Finding of upper limb\Finding of shoulder region\Finding of scapular structure\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Finding of limb structure\Finding of upper limb\Finding of shoulder region\Disorder of shoulder\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Finding of scapular structure\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome

\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome

\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Finding of scapular structure\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome

\Disease\Disorder of joint region\Disorder of shoulder\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of shoulder\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of bone of shoulder girdle\Congenital anomaly of scapula\Congenital elevation of scapula\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3324684019 Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3324685018 Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome en Synonym Active Initial character case insensitive SNOMED CT core

3324686017 Ferlini Ragno Calzolari syndrome en Synonym Active Case sensitive SNOMED CT core

3324687014 Waaler Aarskog syndrome en Synonym Active Case sensitive SNOMED CT core

3324688016 This syndrome has principal characteristics of by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly and costovertebral dysplasia may also be present. The syndrome has been described in eight female patients. The mode of transmission has not been firmly established but appears to be either autosomal or X-linked dominant. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Associated morphology	Superior displacement	true	Inferred relationship	Some	1
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Finding site	Brain CSF pathway	true	Inferred relationship	Some	2
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Finding site	Bone structure of scapula	true	Inferred relationship	Some	1
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	2
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Associated morphology	Dilatation	true	Inferred relationship	Some	2
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Is a	Congenital hydrocephalus	true	Inferred relationship	Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Is a	Congenital elevation of scapula	true	Inferred relationship	Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	3
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Finding site	Brain CSF pathway	false	Inferred relationship	Some	3
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Finding site	Bone structure of scapula	false	Inferred relationship	Some	4
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Finding site	Bone structure of scapula	false	Inferred relationship	Some	5
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	Associated morphology	Superior displacement	false	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3324684019	Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3324685018	Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3324686017	Ferlini Ragno Calzolari syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3324687014	Waaler Aarskog syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3324688016	This syndrome has principal characteristics of by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly and costovertebral dysplasia may also be present. The syndrome has been described in eight female patients. The mode of transmission has not been firmly established but appears to be either autosomal or X-linked dominant.	en	Definition	Active	Case sensitive	SNOMED CT core