Congenital malformation syndromes predominantly associated with short stature

Preferred Label : Congenital malformation syndromes predominantly associated with short stature;

Inclusion CIM-10 : Noonan syndrome; Dubowitz syndrome; Cockayne syndrome; Russell-Silver syndrome; Robinow-Silverman-Smith syndrome; Aarskog syndrome; De Lange syndrome; Prader-Willi syndrome; Seckel syndrome;

ICD-10 exclusion note : Smith-Lemli-Opitz syndrome (E78.72); Ellis-van Creveld syndrome (Q77.6);

Diag associé à un acte (%) : 69.2;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q871;

UMLS CUI

C0347915;

Automatic exact mappings (from CISMeF team)
- Aarskog Syndrome [NCIt concept]
- Aarskog syndrome [MeSH concept]
- Aarskog syndrome [MedDRA LLT]
- Aarskog syndrome [DO Concept]
- Aarskog syndrome (disorder) [SNOMED CT concept]
- Cockayne Syndrome [Radlex concept]
- Cockayne syndrome [ORDO Disease]
- Cockayne syndrome [DO Concept]
- Cockayne syndrome [ICD-11 More detail]
- Cockayne syndrome [PASCAL descriptor]
- Cockayne syndrome (disorder) [SNOMED CT concept]
- Cockayne syndrome a [OMIM Phenotype]
- Cockayne's syndrome [MedDRA Preferred Term]
- Cornelia de lange syndrome 1 [OMIM Phenotype]
- De Lange syndrome [PASCAL descriptor]
- De Lange syndrome (disorder) [SNOMED CT concept]
- De Lange's syndrome [MedDRA LLT]
- Dubowitz Syndrome [NCIt concept]
- Dubowitz syndrome [MeSH concept]
- Dubowitz syndrome [ORDO Disease]
- Dubowitz syndrome [DO Concept]
- Dubowitz syndrome [MedDRA Preferred Term]
- Dubowitz syndrome [OMIM Phenotype]
- Dubowitz syndrome [PASCAL descriptor]
- Dubowitz's syndrome (disorder) [SNOMED CT concept]
- ERCC excision repair 5, endonuclease [ORDO Gene]
- ERCC excision repair 5, endonuclease [HGNC gene]
- Robinow syndrome [ORDO Disease]
- Russell-Silver Syndrome [NCIt concept]
- Russell-Silver syndrome (disorder) [SNOMED CT concept]
- Seckel Syndrome [NCIt concept]
- Seckel syndrome [ORDO Disease]
- Seckel syndrome [ICD-11 More detail]
- Seckel syndrome [PASCAL descriptor]
- Seckel syndrome [OMIM phenotypic series]
- Seckel syndrome (disorder) [SNOMED CT concept]
- Silver-Russell syndrome [MeSH Descriptor]
- Silver-Russell syndrome [MeSH concept]
- Silver-russell syndrome 1 [OMIM Phenotype]
- Smith-Lemli-Opitz Syndrome [NCIt concept]
- Smith-Lemli-Opitz syndrome [MeSH concept]
- X-linked Aarskog syndrome [DO Concept]
- cockayne syndrome [MeSH Descriptor]
- cockayne syndrome [MeSH concept]
- de lange syndrome [MeSH Descriptor]
- de lange syndrome [MeSH concept]
- dubowitz syndrome [MeSH Supplementary Concept]
- smith-lemli-opitz syndrome [MeSH Descriptor]
CISMeF manual mappings
- Congenital malformation syndromes associated with short stature (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Noonan syndrome [ORDO Disease]
- Noonan syndrome [ICD-11 Sub-sub category]
- Noonan syndrome [MedDRA Preferred Term]
- Noonan syndrome [DO Concept]
- Noonan syndrome [PASCAL descriptor]
- Noonan syndrome [OMIM phenotypic series]
- Noonan syndrome 1 [OMIM Phenotype]
- Noonan's syndrome (disorder) [SNOMED CT concept]
- Prader-Willi Syndrome [NCIt concept]
- Prader-Willi syndrome [MeSH concept]
- Prader-Willi syndrome [ORDO Disease]
- Prader-Willi syndrome [ICD-11 Subcategory]
- Prader-Willi syndrome [MedDRA Preferred Term]
- Prader-Willi syndrome (disorder) [SNOMED CT concept]
- Prader-willi syndrome [OMIM Phenotype]
- noonan syndrome [MeSH Descriptor]
- noonan syndrome [MeSH concept]
- noonan syndrome [SNOMED Notion]
- prader-willi syndrome [MedlinePlus Topic]
DO Cross reference
- Noonan syndrome 1 [DO Concept]
- Noonan syndrome 10 [DO Concept]
- Noonan syndrome 2 [DO Concept]
- Noonan syndrome 3 [DO Concept]
- Noonan syndrome 4 [DO Concept]
- Noonan syndrome 5 [DO Concept]
- Noonan syndrome 6 [DO Concept]
- Noonan syndrome 7 [DO Concept]
- Noonan syndrome 8 [DO Concept]
- Noonan syndrome 9 [DO Concept]
- Seckel syndrome [DO Concept]
- microcephalic osteodysplastic primordial dwarfism type I [DO Concept]
- microcephalic osteodysplastic primordial dwarfism type II [DO Concept]
Excluded by
- Cerebellar ataxia with defective DNA repair [ICD-10 Sub-category]
- Epidermolysis bullosa simplex [ICD-10 Sub-category]
- Hypothalamic dysfunction, not elsewhere classified [ICD-10 Sub-category]
- Overweight and obesity [ICD-10 category]
- Short stature due to endocrine disorder [ICD-10 Sub-category]
- Turner's syndrome [ICD-10 category]
ICD-10 exclusion(s)
- Chondroectodermal dysplasia [ICD-10 Sub-category]
Manual NTBT mappings (CISMeF)
- Prader-Willi syndrome due to imprinting mutation [ORDO Disease]
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 [ORDO Disease]
- Prader-Willi syndrome due to paternal 15q11q13 deletion [ORDO Disease]
- Prader-Willi syndrome due to translocation [ORDO Disease]
Orphanet concepts
- 3M syndrome [ORDO Disease]
- Aarskog-Scott syndrome [ORDO Disease]
- Alazami syndrome [ORDO Disease]
- Autosomal dominant Kenny-Caffey syndrome [ORDO Disease]
- Autosomal dominant Robinow syndrome [ORDO Disease]
- Autosomal recessive Kenny-Caffey syndrome [ORDO Disease]
- Autosomal recessive Robinow syndrome [ORDO Disease]
- Boomerang dysplasia [ORDO Disease]
- Brachymorphism-onychodysplasia-dysphalangism syndrome [ORDO Disease]
- COFS syndrome [ORDO Disease]
- Campomelic dysplasia [ORDO Disease]
- Camptodactyly syndrome, Guadalajara type 1 [ORDO Disease]
- Camptodactyly syndrome, Guadalajara type 2 [ORDO Disease]
- Chondrodysplasia-disorder of sex development syndrome [ORDO Disease]
- Cockayne syndrome [ORDO Disease]
- Coffin-Siris syndrome [ORDO Disease]
- Coloboma of macula-brachydactyly type B syndrome [ORDO Disease]
- Cornelia de Lange syndrome [ORDO Disease]
- Coxoauricular syndrome [ORDO Disease]
- Craniofrontonasal dysplasia [ORDO Disease]
- Dubowitz syndrome [ORDO Disease]
- Dwarfism-intellectual disability-eye abnormality syndrome [ORDO Disease]
- Ear-patella-short stature syndrome [ORDO Disease]
- Eng-Strom syndrome [ORDO Disease]
- Facial dysmorphism-immunodeficiency-livedo-short stature syndrome [ORDO Disease]
- Geleophysic dysplasia [ORDO Disease]
- Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome [ORDO Disease]
- IMAGe syndrome [ORDO Disease]
- Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome [ORDO Disease]
- Kenny-Caffey syndrome [ORDO Disease]
- Keratosis follicularis-dwarfism-cerebral atrophy syndrome [ORDO Disease]
- Langer mesomelic dysplasia [ORDO Disease]
- Lenz-Majewski hyperostotic dwarfism [ORDO Disease]
- MAGEL2-related Prader-Willi-like syndrome [ORDO Disease]
- Microcephalic osteodysplastic primordial dwarfism type II [ORDO Disease]
- Microcephalic osteodysplastic primordial dwarfism types I and III [ORDO Disease]
- Microcephalic primordial dwarfism [ORDO Disease]
- Microcephalic primordial dwarfism due to ZNF335 deficiency [ORDO Disease]
- Microcephalic primordial dwarfism, Dauber type [ORDO Disease]
- Microcephalic primordial dwarfism, Montreal type [ORDO Disease]
- Microcephalic primordial dwarfism, Toriello type [ORDO Disease]
- Microcephalic primordial dwarfism-insulin resistance syndrome [ORDO Disease]
- Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome [ORDO Disease]
- Moore-Federman syndrome [ORDO Disease]
- Mulibrey nanism [ORDO Disease]
- Neurofibromatosis-Noonan syndrome [ORDO Disease]
- Noonan syndrome [ORDO Disease]
- Noonan syndrome with multiple lentigines [ORDO Disease]
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia [ORDO Disease]
- Noonan syndrome-like disorder with loose anagen hair [ORDO Disease]
- Oculo-palato-cerebral syndrome [ORDO Disease]
- Osteoglosphonic dysplasia [ORDO Disease]
- Parastremmatic dwarfism [ORDO Disease]
- Pfeiffer-Palm-Teller syndrome [ORDO Disease]
- Prader-Willi syndrome [ORDO Disease]
- Prader-Willi syndrome due to imprinting mutation [ORDO Disease]
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 [ORDO Disease]
- Prader-Willi syndrome due to paternal 15q11q13 deletion [ORDO Disease]
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 [ORDO Disease]
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 [ORDO Disease]
- Prader-Willi syndrome due to translocation [ORDO Disease]
- Prader-Willi-like syndrome [ORDO Disease]
- Primordial short stature-microdontia-opalescent and rootless teeth syndrome [ORDO Disease]
- RAPADILINO syndrome [ORDO Disease]
- Rhizomelic syndrome, Urbach type [ORDO Disease]
- Robinow syndrome [ORDO Disease]
- Robinow-like syndrome [ORDO Disease]
- SHORT syndrome [ORDO Disease]
- SHOX-related short stature [ORDO Disease]
- SIM1-related Prader-Willi-like syndrome [ORDO Disease]
- Sanjad-Sakati syndrome [ORDO Disease]
- Seckel syndrome [ORDO Disease]
- Short stature, Brussels type [ORDO Disease]
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome [ORDO Disease]
- Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome [ORDO Disease]
- Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome [ORDO Disease]
- Short stature-optic atrophy-Pelger-Huët anomaly syndrome [ORDO Disease]
- Short stature-valvular heart disease-characteristic facies syndrome [ORDO Disease]
- Short stature-wormian bones-dextrocardia syndrome [ORDO Disease]
- Silver-Russell syndrome [ORDO Disease]
- Silver-Russell syndrome due to 11p15 microduplication [ORDO Disease]
- Silver-Russell syndrome due to 7p11.2p13 microduplication [ORDO Disease]
- Silver-Russell syndrome due to a point mutation [ORDO Disease]
- Silver-Russell syndrome due to an imprinting defect of 11p15 [ORDO Disease]
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 [ORDO Disease]
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 [ORDO Disease]
- Sjögren-Larsson syndrome [ORDO Disease]
- Smith-Lemli-Opitz syndrome [ORDO Disease]
- Torg-Winchester syndrome [ORDO Disease]
- Trichorhinophalangeal syndrome type 1 and 3 [ORDO Disease]
- Wiedemann-Steiner syndrome [ORDO Disease]
- Xeroderma pigmentosum-Cockayne syndrome complex [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital malformation syndromes associated with short stature (disorder) [SNOMED CT concept]
- Noonan syndrome [ICD-11 Sub-sub category]
Validated automatic mappings to BTNT
- Aarskog syndrome [MeSH Supplementary Concept]
- Aarskog-Scott syndrome [ORDO Disease]
- Cockayne Syndrome [NCIt concept]
- Cornelia de Lange syndrome [DO Concept]
- Dubowitz syndrome [ICD-11 More detail]
- Noonan Syndrome [NCIt concept]
- Noonan Syndrome 1 [NCIt concept]
- Noonan syndrome [DO Concept]
- Noonan syndrome 1 [DO Concept]
- Noonan syndrome 10 [DO Concept]
- Noonan syndrome 2 [DO Concept]
- Noonan syndrome 3 [DO Concept]
- Noonan syndrome 4 [DO Concept]
- Noonan syndrome 5 [DO Concept]
- Noonan syndrome 6 [DO Concept]
- Noonan syndrome 7 [DO Concept]
- Noonan syndrome 8 [DO Concept]
- Noonan syndrome 9 [DO Concept]
- Robinow syndrome [DO Concept]
- Seckel syndrome [DO Concept]
- Silver-Russell syndrome [DO Concept]
- Silver-Russell syndrome [ICD-11 More detail]
- autosomal dominant Robinow syndrome 1 [DO Concept]
- autosomal dominant Robinow syndrome 2 [DO Concept]
- autosomal dominant Robinow syndrome 3 [DO Concept]
- autosomal recessive Robinow syndrome [DO Concept]
- prader-willi syndrome [MeSH Descriptor]
Validated automatic mappings to NTBT
- Prader-Willi syndrome [DO Concept]
- cockayne syndrome [MeSH Descriptor]
- de lange syndrome [MeSH Descriptor]
- smith-lemli-opitz syndrome [MeSH Descriptor]

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