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

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

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

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

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

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

\Finding of brain\Disorder of brain (disorder)\...

\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder)

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

\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder)

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

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

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

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

3324685018 Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3324686017 Ferlini Ragno Calzolari syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3324687014 Waaler Aarskog syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

12687881000172117 syndrome de Waaler-Aarskog fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

12687891000172119 syndrome d'hydrocéphalie, dysplasie costovertébrale et anomalie de Sprengel fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

12687901000172115 syndrome de Ferlini-Ragno-Calzolari fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5212651000172111 syndroom van hydrocefalie, costovertebrale dysplasie en anomalie van Sprengel nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5212661000172113 syndroom van Ferlini-Ragno-Calzolari nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5212671000172116 syndroom van Waaler-Aarskog nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3324684019	Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3324685018	Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3324686017	Ferlini Ragno Calzolari syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324687014	Waaler Aarskog syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
12687881000172117	syndrome de Waaler-Aarskog	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
12687891000172119	syndrome d'hydrocéphalie, dysplasie costovertébrale et anomalie de Sprengel	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
12687901000172115	syndrome de Ferlini-Ragno-Calzolari	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5212651000172111	syndroom van hydrocefalie, costovertebrale dysplasie en anomalie van Sprengel	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5212661000172113	syndroom van Ferlini-Ragno-Calzolari	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5212671000172116	syndroom van Waaler-Aarskog	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)